Disease-gene associations mined from literature

Literature associating CHKB and megaconial type congenital muscular dystrophy

CHKB [ENSP00000384400]

Choline/ethanolamine kinase beta; Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis; Belongs to the choline/ethanolamine kinase family.

Synonyms:  CHKB,  A0A024R4X4,  CHKB-001,  CHKB-002,  CHKB-003 ...

Linkouts:  STRING  Pharos  UniProt