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Q8WVP7 (LMBR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Limb region 1 protein homolog
Alternative name(s):
Differentiation-related gene 14 protein
Gene names
Name:LMBR1
Synonyms:C7orf2, DIF14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length490 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Putative membrane receptor.

Subcellular location

Membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Widely expressed with strongest expression in heart and pancreas. Ref.8

Involvement in disease

Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal.
Note: The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5 (Ref.10). Ref.10

Acheiropody (ACHP) [MIM:200500]: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Syndactyly 4 (SDTY4) [MIM:186200]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally.
Note: The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5. Ref.11

Sequence similarities

Belongs to the LIMR family.

Sequence caution

The sequence AAD43188.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAK31345.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB15595.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Transmembrane
Transmembrane helix
   Molecular functionReceptor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processembryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WVP7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8WVP7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     205-466: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8WVP7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     252-253: NG → NVGMLCAGNPEVATGRQVPEEQAGQLLLGKWIQEGGDMIANPR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 490490Limb region 1 protein homolog
PRO_0000053906

Regions

Topological domain1 – 1919Extracellular Potential
Transmembrane20 – 4021Helical; Potential
Topological domain41 – 6222Cytoplasmic Potential
Transmembrane63 – 8321Helical; Potential
Topological domain84 – 11027Extracellular Potential
Transmembrane111 – 13121Helical; Potential
Topological domain132 – 15120Cytoplasmic Potential
Transmembrane152 – 17221Helical; Potential
Topological domain173 – 18715Extracellular Potential
Transmembrane188 – 20821Helical; Potential
Topological domain209 – 29183Cytoplasmic Potential
Transmembrane292 – 31221Helical; Potential
Topological domain313 – 33927Extracellular Potential
Transmembrane340 – 36021Helical; Potential
Topological domain361 – 38323Cytoplasmic Potential
Transmembrane384 – 40421Helical; Potential
Topological domain405 – 42622Extracellular Potential
Transmembrane427 – 44721Helical; Potential
Topological domain448 – 49043Cytoplasmic Potential
Coiled coil250 – 28738 Potential

Natural variations

Alternative sequence205 – 466262Missing in isoform 2.
VSP_016888
Alternative sequence252 – 2532NG → NVGMLCAGNPEVATGRQVPE EQAGQLLLGKWIQEGGDMIA NPR in isoform 3.
VSP_017441
Natural variant2281T → A.
Corresponds to variant rs6957768 [ dbSNP | Ensembl ].
VAR_031900

Experimental info

Sequence conflict411R → G in AAK94061. Ref.1
Sequence conflict761L → S in AAK94061. Ref.1
Sequence conflict961Y → C in CAD39056. Ref.7
Sequence conflict3491A → V in AAK94061. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 228A0EEF248BAD2C

FASTA49055,098
        10         20         30         40         50         60 
MEGQDEVSAR EQHFHSQVRE STICFLLFAI LYVVSYFIIT RYKRKSDEQE DEDAIVNRIS 

        70         80         90        100        110        120 
LFLSTFTLAV SAGAVLLLPF SIISNEILLS FPQNYYIQWL NGSLIHGLWN LASLFSNLCL 

       130        140        150        160        170        180 
FVLMPFAFFF LESEGFAGLK KGIRARILET LVMLLLLALL ILGIVWVASA LIDNDAASME 

       190        200        210        220        230        240 
SLYDLWEFYL PYLYSCISLM GCLLLLLCTP VGLSRMFTVM GQLLVKPTIL EDLDEQIYII 

       250        260        270        280        290        300 
TLEEEALQRR LNGLSSSVEY NIMELEQELE NVKTLKTKLE RRKKASAWER NLVYPAVMVL 

       310        320        330        340        350        360 
LLIETSISVL LVACNILCLL VDETAMPKGT RGPGIGNASL STFGFVGAAL EIILIFYLMV 

       370        380        390        400        410        420 
SSVVGFYSLR FFGNFTPKKD DTTMTKIIGN CVSILVLSSA LPVMSRTLGI TRFDLLGDFG 

       430        440        450        460        470        480 
RFNWLGNFYI VLSYNLLFAI VTTLCLVRKF TSAVREELFK ALGLHKLHLP NTSRDSETAK 

       490 
PSVNGHQKAL 

« Hide

Isoform 2 [UniParc].

Checksum: FD806A8E1EF3E356
Show »

FASTA22825,836
Isoform 3 [UniParc].

Checksum: 01928A8E126C96CA
Show »

FASTA53159,458

References

« Hide 'large scale' references
[1]"Cloning and expression analysis of leukemia cell line K562 differentiation-related gene DIF14."
Wang Z., Huang G.-S.
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Leukemia.
[2]"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. expand/collapse author list , 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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-490 (ISOFORM 1).
Tissue: Embryo and Hepatoma.
[3]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 1).
Tissue: Lung.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-490 (ISOFORM 3).
Tissue: Amygdala.
[8]"A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36."
Heus H.C., Hing A., van Baren M.J., Joosse M., Breedveld G.J., Wang J.C., Burgess A., Donnis-Keller H., Berglund C., Zguricas J., Scherer S.W., Rommens J.M., Oostra B.A., Heutink P.
Genomics 57:342-351(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[9]"Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene."
Ianakiev P., van Baren M.J., Daly M.J., Toledo S.P., Cavalcanti M.G., Neto J.C., Silveira E.L., Freire-Maia A., Heutink P., Kilpatrick M.W., Tsipouras P.
Am. J. Hum. Genet. 68:38-45(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ACHEIROPODY.
[10]"A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly."
Lettice L.A., Heaney S.J.H., Purdie L.A., Li L., de Beer P., Oostra B.A., Goode D., Elgar G., Hill R.E., de Graaff E.
Hum. Mol. Genet. 12:1725-1735(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH PPD2.
[11]"Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer."
Sun M., Ma F., Zeng X., Liu Q., Zhao X.-L., Wu F.-X., Wu G.-P., Zhang Z.-F., Gu B., Zhao Y.-F., Tian S.-H., Lin B., Kong X.-Y., Zhang X.-L., Yang W., Lo W.H.-Y., Zhang X.
J. Med. Genet. 45:589-595(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SDTY4.
[12]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF348513 mRNA. Translation: AAK31345.1. Different initiation.
AF402318 mRNA. Translation: AAK94061.1.
AK021727 mRNA. Translation: BAB13880.1.
AK026940 mRNA. Translation: BAB15595.1. Different initiation.
AC005534 Genomic DNA. Translation: AAD43188.1. Different initiation.
AC007075 Genomic DNA. Translation: AAF03516.1.
AC007097 Genomic DNA. No translation available.
CH236954 Genomic DNA. Translation: EAL23920.1.
CH471149 Genomic DNA. Translation: EAX04559.1.
BC017663 mRNA. Translation: AAH17663.1.
AL834394 mRNA. Translation: CAD39056.1.
RefSeqNP_071903.2. NM_022458.3.
UniGeneHs.209989.

3D structure databases

ProteinModelPortalQ8WVP7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122137. 1 interaction.
IntActQ8WVP7. 1 interaction.
STRING9606.ENSP00000326604.

PTM databases

PhosphoSiteQ8WVP7.

Polymorphism databases

DMDM74730878.

Proteomic databases

PaxDbQ8WVP7.
PRIDEQ8WVP7.

Protocols and materials databases

DNASU64327.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000353442; ENSP00000326604; ENSG00000105983. [Q8WVP7-1]
ENST00000354505; ENSP00000346500; ENSG00000105983. [Q8WVP7-3]
GeneID64327.
KEGGhsa:64327.
UCSCuc003wmw.4. human. [Q8WVP7-1]
uc010lqn.3. human. [Q8WVP7-3]

Organism-specific databases

CTD64327.
GeneCardsGC07M156473.
HGNCHGNC:13243. LMBR1.
HPAHPA016592.
MIM174500. phenotype.
186200. phenotype.
200500. phenotype.
605522. gene.
neXtProtNX_Q8WVP7.
Orphanet295118. Adactyly of foot, bilateral.
295116. Adactyly of foot, unilateral.
3332. Hypoplastic tibiae - postaxial polydactyly.
295150. Polydactyly of a triphalangeal thumb, bilateral.
295148. Polydactyly of a triphalangeal thumb, unilateral.
295071. Radial hemimelia, bilateral.
295069. Radial hemimelia, unilateral.
93405. Syndactyly type 4.
2950. Triphalangeal thumb - polysyndactyly syndrome.
PharmGKBPA25945.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG246746.
HOVERGENHBG072983.
OMAIREQNFH.
OrthoDBEOG7M0NRC.
PhylomeDBQ8WVP7.
TreeFamTF313485.

Gene expression databases

ArrayExpressQ8WVP7.
BgeeQ8WVP7.
CleanExHS_LMBR1.
GenevestigatorQ8WVP7.

Family and domain databases

InterProIPR008075. Lipcalin_1_rcpt.
IPR006876. LMBR1-like_membr_prot.
[Graphical view]
PfamPF04791. LMBR1. 1 hit.
[Graphical view]
PRINTSPR01692. LIPOCALINIMR.
ProtoNetSearch...

Other

ChiTaRSLMBR1. human.
GeneWikiLMBR1.
GenomeRNAi64327.
NextBio66253.
PROQ8WVP7.
SOURCESearch...

Entry information

Entry nameLMBR1_HUMAN
AccessionPrimary (citable) accession number: Q8WVP7
Secondary accession number(s): A4D242 expand/collapse secondary AC list , Q8N3E3, Q96QZ5, Q9H5N0, Q9HAG9, Q9UDN5, Q9Y6U2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: March 1, 2002
Last modified: April 16, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM