Abstract
The major membrane phospholipid phosphatidylcholine is predominantly synthesized through the CDP-choline (Kennedy) pathway at the endoplasmic reticulum (ER). The first step in this pathway is the phosphorylation of choline by choline kinase. Humans contain two choline kinase isoforms, CHKA and CHKB. Variants in the CHKA gene that decrease enzymatic activity have been shown to cause an inherited neurodevelopmental disorder with epilepsy, while recessive inheritance of nonfunctional CHKB alleles causes an inherited rostrocaudal muscular dystrophy (1, 2).
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