DISEASES

Disease-gene associations mined from literature

Literature associating COL7A1 and Kindler syndrome

COL7A1 [ENSP00000332371]

Collagen alpha-1(VII) chain; Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen; Collagens

Synonyms:  COL7A1,  COL7A1p,  hCOL7A1,  C9JBL3,  Q02388 ...

Linkouts:  STRING  Pharos  UniProt  OMIM