Entity Details

Primary name CHKB
Entity type gene
Source Source Link

Details

PrimaryID1120
RefseqGeneNG_012643
SymbolCHKB
Namecholine kinase beta
Chromosome22
Location22q13.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCHKB_HUMAN

GO terms

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GOName
GO:0004103 choline kinase activity
GO:0004305 ethanolamine kinase activity
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0006656 phosphatidylcholine biosynthetic process

Diseases

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Disease IDSourceNameDescription
602541 OMIMMuscular 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
CHKBALBBioGRID, IntAct15174051 details