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Q96NR8

- RDH12_HUMAN

UniProt

Q96NR8 - RDH12_HUMAN

Protein

Retinol dehydrogenase 12

Gene

RDH12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei175 – 1751SubstrateBy similarity
    Active sitei200 – 2001Proton acceptorBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi46 – 527NADPBy similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. retinol dehydrogenase activity Source: UniProtKB

    GO - Biological processi

    1. photoreceptor cell maintenance Source: UniProtKB
    2. phototransduction, visible light Source: Reactome
    3. retinoid metabolic process Source: Reactome
    4. retinol metabolic process Source: UniProtKB
    5. visual perception Source: UniProtKB

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000139988-MONOMER.
    BRENDAi1.1.1.105. 2681.
    ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Retinol dehydrogenase 12 (EC:1.1.1.-)
    Alternative name(s):
    All-trans and 9-cis retinol dehydrogenase
    Gene namesi
    Name:RDH12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19977. RDH12.

    Subcellular locationi

    GO - Cellular componenti

    1. intracellular Source: UniProtKB
    2. photoreceptor inner segment membrane Source: Reactome

    Pathology & Biotechi

    Involvement in diseasei

    Leber congenital amaurosis 13 (LCA13) [MIM:612712]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491T → M in LCA13; aberrant activity in interconverting isomers of retinol and retinal; there is differing activity profiles associated with each of the alleles of the R-161-Q polymorphism; genetic background may act as a modifier of mutation effect. 1 Publication
    Corresponds to variant rs28940314 [ dbSNP | Ensembl ].
    VAR_020858
    Natural varianti51 – 511I → N in LCA13. 1 Publication
    VAR_020859
    Natural varianti79 – 791A → V Found in a patient with LCA13. 1 Publication
    VAR_067193
    Natural varianti99 – 991L → I in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
    Corresponds to variant rs28940315 [ dbSNP | Ensembl ].
    VAR_020860
    Natural varianti151 – 1511H → D in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
    VAR_020861
    Natural varianti151 – 1511H → N in LCA13. 1 Publication
    VAR_020862
    Natural varianti175 – 1751S → P in LCA13. 1 Publication
    VAR_020863
    Natural varianti226 – 2261Y → C in LCA13; diminished activity in interconverting isomers of retinol and retinal. 1 Publication
    Corresponds to variant rs28940313 [ dbSNP | Ensembl ].
    VAR_020864
    Natural varianti230 – 2301P → A in LCA13. 1 Publication
    VAR_020865
    Retinitis pigmentosa 53 (RP53) [MIM:612712]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761G → R in RP53. 1 Publication
    VAR_064166
    Natural varianti126 – 1261A → V in RP53. 1 Publication
    VAR_064169

    Keywords - Diseasei

    Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

    Organism-specific databases

    MIMi612712. phenotype.
    Orphaneti65. Leber congenital amaurosis.
    791. Retinitis pigmentosa.
    PharmGKBiPA134864793.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 316316Retinol dehydrogenase 12PRO_0000054766Add
    BLAST

    Proteomic databases

    MaxQBiQ96NR8.
    PaxDbiQ96NR8.
    PRIDEiQ96NR8.

    PTM databases

    PhosphoSiteiQ96NR8.

    Expressioni

    Tissue specificityi

    Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach.

    Gene expression databases

    BgeeiQ96NR8.
    CleanExiHS_RDH12.
    GenevestigatoriQ96NR8.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    UBCP0CG482EBI-3916363,EBI-3390054

    Protein-protein interaction databases

    BioGridi126895. 4 interactions.
    IntActiQ96NR8. 4 interactions.
    MINTiMINT-3056571.
    STRINGi9606.ENSP00000267502.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96NR8.
    SMRiQ96NR8. Positions 33-310.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1028.
    HOVERGENiHBG078800.
    InParanoidiQ96NR8.
    KOiK11153.
    OMAiIAPSIRK.
    OrthoDBiEOG73Z2TK.
    PhylomeDBiQ96NR8.
    TreeFamiTF105429.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view]
    PfamiPF00106. adh_short. 1 hit.
    [Graphical view]
    PRINTSiPR00081. GDHRDH.
    PR00080. SDRFAMILY.

    Sequencei

    Sequence statusi: Complete.

    Q96NR8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLVTLGLLTS FFSFLYMVAP SIRKFFAGGV CRTNVQLPGK VVVITGANTG    50
    IGKETARELA SRGARVYIAC RDVLKGESAA SEIRVDTKNS QVLVRKLDLS 100
    DTKSIRAFAE GFLAEEKQLH ILINNAGVMM CPYSKTADGF ETHLGVNHLG 150
    HFLLTYLLLE RLKVSAPARV VNVSSVAHHI GKIPFHDLQS EKRYSRGFAY 200
    CHSKLANVLF TRELAKRLQG TGVTTYAVHP GVVRSELVRH SSLLCLLWRL 250
    FSPFVKTARE GAQTSLHCAL AEGLEPLSGK YFSDCKRTWV SPRARNNKTA 300
    ERLWNVSCEL LGIRWE 316
    Length:316
    Mass (Da):35,094
    Last modified:October 17, 2006 - v3
    Checksum:iEA0915E1E484879B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471A → T in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064163
    Natural varianti49 – 491T → M in LCA13; aberrant activity in interconverting isomers of retinol and retinal; there is differing activity profiles associated with each of the alleles of the R-161-Q polymorphism; genetic background may act as a modifier of mutation effect. 1 Publication
    Corresponds to variant rs28940314 [ dbSNP | Ensembl ].
    VAR_020858
    Natural varianti51 – 511I → N in LCA13. 1 Publication
    VAR_020859
    Natural varianti55 – 551T → M in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064164
    Natural varianti65 – 651R → Q.1 Publication
    VAR_064165
    Natural varianti76 – 761G → R in RP53. 1 Publication
    VAR_064166
    Natural varianti79 – 791A → V Found in a patient with LCA13. 1 Publication
    VAR_067193
    Natural varianti99 – 991L → I in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
    Corresponds to variant rs28940315 [ dbSNP | Ensembl ].
    VAR_020860
    Natural varianti101 – 1011D → N.1 Publication
    VAR_064167
    Natural varianti125 – 1251N → K in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064168
    Natural varianti126 – 1261A → V in RP53. 1 Publication
    VAR_064169
    Natural varianti145 – 1451G → E in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064170
    Natural varianti151 – 1511H → D in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
    VAR_020861
    Natural varianti151 – 1511H → N in LCA13. 1 Publication
    VAR_020862
    Natural varianti155 – 1551T → I in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064171
    Natural varianti161 – 1611R → Q.3 Publications
    Corresponds to variant rs17852293 [ dbSNP | Ensembl ].
    VAR_028281
    Natural varianti175 – 1751S → P in LCA13. 1 Publication
    VAR_020863
    Natural varianti193 – 1931R → C in retinal dystrophy; unknown pathological significance. 1 Publication
    VAR_064172
    Natural varianti206 – 2061A → D in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064173
    Natural varianti206 – 2061A → V in retinal dystrophy; unknown pathological significance. 1 Publication
    VAR_064174
    Natural varianti226 – 2261Y → C in LCA13; diminished activity in interconverting isomers of retinol and retinal. 1 Publication
    Corresponds to variant rs28940313 [ dbSNP | Ensembl ].
    VAR_020864
    Natural varianti230 – 2301P → A in LCA13. 1 Publication
    VAR_020865
    Natural varianti230 – 2301P → L in retinal dystrophy; unknown pathological significance. 1 Publication
    VAR_064175
    Natural varianti234 – 2341R → H in retinal dystrophy; unknown pathological significance; exhibits a loss of catalytic activity. 1 Publication
    VAR_064176
    Natural varianti239 – 2391R → W in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064177
    Natural varianti274 – 2741L → P in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064178
    Natural varianti285 – 2851C → Y in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
    VAR_064179

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK054835 mRNA. Translation: BAB70811.1.
    AK315462 mRNA. Translation: BAG37849.1.
    AL049779 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80951.1.
    BC025724 mRNA. Translation: AAH25724.1.
    CCDSiCCDS9787.1.
    RefSeqiNP_689656.2. NM_152443.2.
    UniGeneiHs.415322.

    Genome annotation databases

    EnsembliENST00000267502; ENSP00000267502; ENSG00000139988.
    ENST00000551171; ENSP00000449079; ENSG00000139988.
    GeneIDi145226.
    KEGGihsa:145226.
    UCSCiuc001xjz.4. human.

    Polymorphism databases

    DMDMi116242750.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK054835 mRNA. Translation: BAB70811.1 .
    AK315462 mRNA. Translation: BAG37849.1 .
    AL049779 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80951.1 .
    BC025724 mRNA. Translation: AAH25724.1 .
    CCDSi CCDS9787.1.
    RefSeqi NP_689656.2. NM_152443.2.
    UniGenei Hs.415322.

    3D structure databases

    ProteinModelPortali Q96NR8.
    SMRi Q96NR8. Positions 33-310.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126895. 4 interactions.
    IntActi Q96NR8. 4 interactions.
    MINTi MINT-3056571.
    STRINGi 9606.ENSP00000267502.

    Chemistry

    DrugBanki DB00162. Vitamin A.

    PTM databases

    PhosphoSitei Q96NR8.

    Polymorphism databases

    DMDMi 116242750.

    Proteomic databases

    MaxQBi Q96NR8.
    PaxDbi Q96NR8.
    PRIDEi Q96NR8.

    Protocols and materials databases

    DNASUi 145226.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000267502 ; ENSP00000267502 ; ENSG00000139988 .
    ENST00000551171 ; ENSP00000449079 ; ENSG00000139988 .
    GeneIDi 145226.
    KEGGi hsa:145226.
    UCSCi uc001xjz.4. human.

    Organism-specific databases

    CTDi 145226.
    GeneCardsi GC14P068168.
    GeneReviewsi RDH12.
    HGNCi HGNC:19977. RDH12.
    MIMi 608830. gene.
    612712. phenotype.
    neXtProti NX_Q96NR8.
    Orphaneti 65. Leber congenital amaurosis.
    791. Retinitis pigmentosa.
    PharmGKBi PA134864793.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1028.
    HOVERGENi HBG078800.
    InParanoidi Q96NR8.
    KOi K11153.
    OMAi IAPSIRK.
    OrthoDBi EOG73Z2TK.
    PhylomeDBi Q96NR8.
    TreeFami TF105429.

    Enzyme and pathway databases

    BioCyci MetaCyc:ENSG00000139988-MONOMER.
    BRENDAi 1.1.1.105. 2681.
    Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).

    Miscellaneous databases

    GeneWikii RDH12.
    GenomeRNAii 145226.
    NextBioi 85049.
    PROi Q96NR8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96NR8.
    CleanExi HS_RDH12.
    Genevestigatori Q96NR8.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view ]
    Pfami PF00106. adh_short. 1 hit.
    [Graphical view ]
    PRINTSi PR00081. GDHRDH.
    PR00080. SDRFAMILY.
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-161.
      Tissue: Cerebellum and Kidney.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina."
      Haeseleer F., Jang G.-F., Imanishi Y., Driessen C.A.G.G., Matsumura M., Nelson P.S., Palczewski K.
      J. Biol. Chem. 277:45537-45546(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    6. Cited for: VARIANTS LCA13 ASN-51; ILE-99; ASN-151; ASP-151; PRO-175 AND ALA-230.
    7. "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy."
      Janecke A.R., Thompson D.A., Utermann G., Becker C., Huebner C.A., Schmid E., McHenry C.L., Nair A.R., Rueschendorf F., Heckenlively J., Wissinger B., Nuernberg P., Gal A.
      Nat. Genet. 36:850-854(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LCA13 MET-49 AND CYS-226.
    8. Cited for: VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285, VARIANTS GLN-65; ASN-101; GLN-161 AND CYS-193, CHARACTERIZATION OF VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285, CHARACTERIZATION OF VARIANT GLN-161.
    9. "Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping."
      Benayoun L., Spiegel R., Auslender N., Abbasi A.H., Rizel L., Hujeirat Y., Salama I., Garzozi H.J., Allon-Shalev S., Ben-Yosef T.
      Am. J. Med. Genet. A 149:650-656(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP53 VAL-126.
    10. "Molecular characterization of retinitis pigmentosa in Saudi Arabia."
      Aldahmesh M.A., Safieh L.A., Alkuraya H., Al-Rajhi A., Shamseldin H., Hashem M., Alzahrani F., Khan A.O., Alqahtani F., Rahbeeni Z., Alowain M., Khalak H., Al-Hazzaa S., Meyer B.F., Alkuraya F.S.
      Mol. Vis. 15:2464-2469(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RP53 ARG-76.
    11. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
      Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
      PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-79 AND GLN-161.

    Entry informationi

    Entry nameiRDH12_HUMAN
    AccessioniPrimary (citable) accession number: Q96NR8
    Secondary accession number(s): B2RDA2, Q8TAW6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 29, 2003
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 120 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3