DISEASES

Disease-gene associations mined from literature

Literature associating COL14A1 and punctate palmoplantar keratoderma

COL14A1 [ENSP00000297848]

Collagen alpha-1(XIV) chain; Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity); Collagens

Synonyms:  COL14A1,  COL14A1p,  hCOL14A1,  J3QT75,  J3QT83 ...

Linkouts:  STRING  Pharos  UniProt  OMIM