Entity Details

Primary name ITGA7
Entity type gene
Source Source Link

Details

PrimaryID3679
RefseqGeneNG_012343
SymbolITGA7
Nameintegrin subunit alpha 7
Chromosome12
Location12q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsITA7_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007517 muscle organ development
GO:0008305 integrin complex
GO:0008360 regulation of cell shape
GO:0009986 cell surface
GO:0030198 extracellular matrix organization
GO:0034113 heterotypic cell-cell adhesion
GO:0035987 endodermal cell differentiation
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
613204 OMIMMuscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI)A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. The disease is caused by variants affecting the gene represented in this entry.