CHKB gene

choline kinase beta

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

From UniProt:

Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Megaconial type congenital muscular dystrophy

From UniProt:

Muscular dystrophy, congenital, megaconial type (MDCMC): An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. [MIM:602541]

Cytogenetic Location: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33

Molecular Location: base pairs 50,578,963 to 50,582,849 on chromosome 22 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33
  • CHKL
  • CK
  • CKB
  • EK
  • EKB