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P28360 (MSX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 161. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein MSX-1
Alternative name(s):
Homeobox protein Hox-7
Msh homeobox 1-like protein
Gene names
Name:MSX1
Synonyms:HOX7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length303 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity. Ref.3 Ref.9

Subcellular location

Nucleus.

Tissue specificity

Expressed in the developing nail bed mesenchyme. Ref.9

Post-translational modification

Sumoylated by PIAS1, desumoylated by SENP1 By similarity.

Involvement in disease

Tooth agenesis selective 1 (STHAG1) [MIM:106600]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Tooth agenesis selective type 1 can be associated with orofacial cleft in some patients.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11

MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4.

Ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the Msh homeobox family.

Contains 1 homeobox DNA-binding domain.

Caution

It is uncertain whether Met-1 or Met-7 is the initiator.

Sequence caution

The sequence AAA52683.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAA58665.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAH67353.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAL17870.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence ABK81117.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAF83325.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseDisease mutation
Ectodermal dysplasia
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
Repressor
   PTMIsopeptide bond
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processBMP signaling pathway involved in heart development

Inferred from electronic annotation. Source: Ensembl

activation of meiosis

Inferred from electronic annotation. Source: Ensembl

anterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

bone morphogenesis

Inferred from electronic annotation. Source: Ensembl

cartilage morphogenesis

Inferred from electronic annotation. Source: Ensembl

cell morphogenesis

Inferred from direct assay PubMed 15705871. Source: BHF-UCL

cellular response to nicotine

Inferred from electronic annotation. Source: Ensembl

embryonic forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic nail plate morphogenesis

Inferred from mutant phenotype Ref.9. Source: BHF-UCL

epithelial to mesenchymal transition involved in endocardial cushion formation

Inferred from electronic annotation. Source: Ensembl

face morphogenesis

Inferred from mutant phenotype PubMed 10742093PubMed 11332647PubMed 12651933. Source: BHF-UCL

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

mammary gland epithelium development

Inferred from electronic annotation. Source: Ensembl

mesenchymal cell proliferation

Inferred from electronic annotation. Source: Ensembl

midbrain development

Inferred from electronic annotation. Source: Ensembl

middle ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

muscle organ development

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell growth

Inferred from direct assay PubMed 15705871. Source: BHF-UCL

negative regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of striated muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription regulatory region DNA binding

Inferred from electronic annotation. Source: Ensembl

odontogenesis of dentin-containing tooth

Inferred from mutant phenotype PubMed 10742093Ref.9Ref.10. Source: BHF-UCL

palate development

Inferred from electronic annotation. Source: Ensembl

pituitary gland development

Inferred from electronic annotation. Source: Ensembl

positive regulation of BMP signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of DNA damage response, signal transduction by p53 class mediator

Inferred by curator PubMed 15705871. Source: BHF-UCL

positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator

Inferred from direct assay PubMed 15705871. Source: BHF-UCL

positive regulation of mesenchymal cell apoptotic process

Inferred from electronic annotation. Source: Ensembl

protein localization to nucleus

Inferred from direct assay PubMed 15705871. Source: BHF-UCL

protein stabilization

Inferred from direct assay PubMed 15705871. Source: BHF-UCL

regulation of odontogenesis

Inferred from electronic annotation. Source: Ensembl

signal transduction involved in regulation of gene expression

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay PubMed 15705871. Source: BHF-UCL

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

p53 binding

Inferred from physical interaction PubMed 15705871. Source: BHF-UCL

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 303303Homeobox protein MSX-1
PRO_0000049086

Regions

DNA binding172 – 23160Homeobox
Compositional bias35 – 428Poly-Ala
Compositional bias261 – 2699Poly-Ala

Amino acid modifications

Cross-link15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Cross-link133Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity

Natural variations

Natural variant671M → K in STHAG1. Ref.11
VAR_015712
Natural variant841E → V in OFC5; cleft palate only. Ref.3
VAR_018391
Natural variant971G → D in OFC5; cleft palate only. Ref.3
VAR_018392
Natural variant1201V → G in OFC5; cleft palate only. Ref.3
VAR_018393
Natural variant1221G → E in OFC5; bilateral cleft palate. Ref.3
Corresponds to variant rs28933081 [ dbSNP | Ensembl ].
VAR_018394
Natural variant1571R → S in OFC5; unilateral cleft palate. Ref.3 Ref.4
VAR_018395
Natural variant2021R → P in STHAG1; severely impairs DNA-binding. Ref.10
VAR_003754

Experimental info

Sequence conflict281G → D in BAF83325. Ref.4
Sequence conflict451A → T in AAA58665. Ref.2
Sequence conflict97 – 993GVP → ASR in AAA58665. Ref.2
Sequence conflict1461M → T in BAF83325. Ref.4
Sequence conflict2221N → S in BAF83325. Ref.4

Sequences

Sequence LengthMass (Da)Tools
P28360 [UniParc].

Last modified November 13, 2013. Version 3.
Checksum: 1B5F01B35920E64F

FASTA30331,496
        10         20         30         40         50         60 
MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA KPKVSPSLLP 

        70         80         90        100        110        120 
FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP GSLGAPDAPS SPRPLGHFSV 

       130        140        150        160        170        180 
GGLLKLPEDA LVKAESPEKP ERTPWMQSPR FSPPPARRLS PPACTLRKHK TNRKPRTPFT 

       190        200        210        220        230        240 
TAQLLALERK FRQKQYLSIA ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM 

       250        260        270        280        290        300 
AAKPMLPPAA FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY 


HLT 

« Hide

References

« Hide 'large scale' references
[1]"Structure and sequence of the human homeobox gene HOX7."
Hewitt J.E., Clarke L.E., Iven A., Williamson R.
Genomics 11:670-678(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Lymphocyte.
[2]"Characterization of the human HOX 7 cDNA and identification of polymorphic markers."
Padanilam B.J., Stadler S.H., Mills K.A., McLeod L.B., Solursh M., Lee B.M., Ramirez F., Buetow K.H., Murray J.C.
Hum. Mol. Genet. 1:407-410(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Ectomesenchyme.
[3]"Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate."
Jezewski P.A., Vieira A.R., Nishimura C., Ludwig B., Johnson M., O'Brien S.E., Daack-Hirsch S., Schultz R.E., Weber A., Nepomucena B., Romitti P.A., Christensen K., Orioli I.M., Castilla E.E., Machida J., Natsume N., Murray J.C.
J. Med. Genet. 40:399-407(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, VARIANTS OFC5 VAL-84; ASP-97; GLY-120; GLU-122 AND SER-157.
[4]"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], VARIANT SER-157.
Tissue: Embryo.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [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].
Tissue: Neuroblastoma and Pancreatic carcinoma.
[7]"Single nucleotide polymorphism analysis of the MSX1 gene within Indian population for cleft lip and palate."
Prasad S., Shama Rao K., Mukhyopadhyay A.
Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-156.
[8]"The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome."
Ivens A., Flavin N., Williamson R., Dixon M., Bates G., Buckingham M., Robert B.
Hum. Genet. 84:473-476(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 191-251, INVOLVEMENT IN WOLF-HIRSCHORN SYNDROME.
[9]"A nonsense mutation in MSX1 causes Witkop syndrome."
Jumlongras D., Bei M., Stimson J.M., Wang W.-F., DePalma S.R., Seidman C.E., Felbor U., Maas R., Seidman J.G., Olsen B.R.
Am. J. Hum. Genet. 69:67-74(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN ECTD3.
[10]"A human MSX1 homeodomain missense mutation causes selective tooth agenesis."
Vastardis H., Karimbux N., Guthua S.W., Seidman J.G., Seidman C.E.
Nat. Genet. 13:417-421(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT STHAG1 PRO-202.
[11]"The role of MSX1 in human tooth agenesis."
Lidral A.C., Reising B.C.
J. Dent. Res. 81:274-278(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT STHAG1 LYS-67.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M76732, M76731 Genomic DNA. Translation: AAA58665.1. Different initiation.
M97676 mRNA. Translation: AAA52683.1. Different initiation.
AF426432 Genomic DNA. Translation: AAL17870.1. Different initiation.
AK290636 mRNA. Translation: BAF83325.1. Different initiation.
AC092437 Genomic DNA. No translation available.
BC021285 mRNA. Translation: AAH21285.4.
BC067353 mRNA. Translation: AAH67353.1. Different initiation.
EF065625 Genomic DNA. Translation: ABK81117.1. Different initiation.
CCDSCCDS3378.2.
PIRA40560.
I54320.
RefSeqNP_002439.2. NM_002448.3.
UniGeneHs.424414.

3D structure databases

ProteinModelPortalP28360.
SMRP28360. Positions 173-230.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110593. 15 interactions.
IntActP28360. 4 interactions.
MINTMINT-6611751.
STRING9606.ENSP00000372170.

PTM databases

PhosphoSiteP28360.

Polymorphism databases

DMDM557952603.

Proteomic databases

MaxQBP28360.
PaxDbP28360.
PRIDEP28360.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382723; ENSP00000372170; ENSG00000163132.
GeneID4487.
KEGGhsa:4487.
UCSCuc003gif.3. human.

Organism-specific databases

CTD4487.
GeneCardsGC04P004861.
HGNCHGNC:7391. MSX1.
HPACAB026198.
HPA049277.
MIM106600. phenotype.
142983. gene.
189500. phenotype.
608874. phenotype.
neXtProtNX_P28360.
Orphanet199306. Cleft lip/palate.
2227. Hypodontia.
2228. Hypodontia - dysplasia of nails.
99798. Oligodontia.
PharmGKBPA31196.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG298790.
HOGENOMHOG000231922.
HOVERGENHBG005205.
InParanoidP28360.
KOK09341.
OMAEKQERTP.
OrthoDBEOG70GMGK.
PhylomeDBP28360.
TreeFamTF350699.

Enzyme and pathway databases

SignaLinkP28360.

Gene expression databases

ArrayExpressP28360.
BgeeP28360.
CleanExHS_MSX1.
GenevestigatorP28360.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMSX1.
GenomeRNAi4487.
NextBio17359.
PROP28360.
SOURCESearch...

Entry information

Entry nameMSX1_HUMAN
AccessionPrimary (citable) accession number: P28360
Secondary accession number(s): A0SZU5, A8K3M1, Q96NY4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: November 13, 2013
Last modified: July 9, 2014
This is version 161 of the entry and version 3 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 4

Human chromosome 4: entries, gene names and cross-references to MIM