DISEASES

Disease-gene associations mined from literature

Literature associating COL3A1 and spondyloepiphyseal dysplasia congenita

COL3A1 [ENSP00000304408]

Collagen alpha-1(III) chain; Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Synonyms:  COL3A1,  COL3A1p,  hCOL3A1,  H7C435,  P02461 ...

Linkouts:  STRING  Pharos  UniProt  OMIM