CHKB Chromosome 22
Choline kinase beta
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What This Gene Does
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]
Gene Info
Gene Group
Choline kinase family
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000100288
Associated Conditions (5)
Megaconial type congenital muscular dystrophy
Inborn genetic diseases
CHKB-related disorder
See cases
Muscular dystrophy
Key Variants
RS139818555
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS141381896
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS141934594
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS143061031
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Inborn genetic diseases, Megaconial type congenital muscular dystrophy
Health Risk
RS146163970
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS146693439
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS147485527
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS149858290
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, CHKB-related disorder, Megaconial type congenital muscular dystrophy
Health Risk
RS151123092
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS199703765
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
RS199704510
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, CHKB-related disorder, Megaconial type congenital muscular dystrophy
Health Risk
RS200919604
Conflicting classifications of pathogenicity
Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387907069 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS750764003 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, CHKB-related disorder, Megaconial type congenital muscular dystrophy |
| RS752436924 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS757369551 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS771681297 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS772568756 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS786205117 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS786205118 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS80067609 | Health Risk | Pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |
| RS373091820 | Health Risk | Pathogenic/Likely pathogenic | Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy |