DISEASES

Disease-gene associations mined from literature

Literature associating CHORDC1 and frontometaphyseal dysplasia

CHORDC1 [ENSP00000319255]

Cysteine and histidine-rich domain-containing protein 1; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis.

Synonyms:  CHORDC1,  CHORDC1p,  hCHORDC1,  E9PHZ2,  E9PIF7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM