CHKA
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Choline kinase alpha is an enzyme that in humans is encoded by the CHKA gene.[5][6][7]
External IDsOMIM: 118491; MGI: 107760; HomoloGene: 88575; GeneCards: CHKA; OMA:CHKA - orthologs
The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene.[7]
In melanocytic cells CHKA gene expression may be regulated by MITF.[8]
Clinical significance
Mutations of the CHKA gene cause a neurodevelopmental disorder with epilepsy and microcephaly.[9]