DISEASES

Disease-gene associations mined from literature

Literature associating CDS1 and congenital muscular dystrophy with cataracts and intellectual disability

CDS1 [ENSP00000295887]

Phosphatidate cytidylyltransferase 1; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol (PtdIns), phosphatidylglycerol, and cardiolipin. Overexpression may amplify cellular signaling responses from cytokines. May also play an important role in the signal transduction mechanism of retina and neural cells.

Synonyms:  CDS1,  CDS1p,  hCDS1,  A0A024RDG8,  D6RGC8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM