Disease-gene associations mined from literature

Literature associating COL5A2 and brittle cornea syndrome 1

COL5A2 [ENSP00000364000]

Collagen alpha-2(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue- specific matrices (By similarity).

Synonyms:  COL5A2,  COL5A2p,  hCOL5A2,  D3DPH5,  P05997 ...

Linkouts:  STRING  Pharos  UniProt  OMIM