CHKA


Description

The CHKA (choline kinase alpha) is a protein-coding gene located on chromosome 11.

CHKA is an enzyme encoded by the CHKA gene in humans. It plays a key role in the CDP-choline pathway, the primary pathway for phosphatidylcholine biosynthesis, by catalyzing the initial phosphorylation step. CHKA also phosphorylates ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. In melanocytic cells, CHKA gene expression may be regulated by MITF. Mutations in the CHKA gene can lead to a neurodevelopmental disorder characterized by epilepsy and microcephaly.

CHKA plays a crucial role in phospholipid biosynthesis by catalyzing the phosphorylation of free choline to phosphocholine, the first step in phosphatidylcholine biosynthesis. It also phosphorylates ethanolamine, contributing to phosphatidylethanolamine biosynthesis. CHKA exhibits higher activity with choline and may contribute to tumor cell growth.

CHKA is also known as CHK, CK, CKI, EK, NEDMIMS.

Associated Diseases



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