CHKA
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Choline kinase alpha is an enzyme that in humans is encoded by the CHKA gene.[1][2][3]
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.[3]
In melanocytic cells CHKA gene expression may be regulated by MITF.[4]
Clinical significance
[edit | edit source]Mutations of the CHKA gene cause a neurodevelopmental disorder with epilepsy and microcephaly.[5]
References
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External links
[edit | edit source]- Human CHKA genome location and CHKA gene details page in the UCSC Genome Browser.
Further reading
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