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]

PDBOrtholog search: PDBe RCSB
AliasesCHKA, CHK, CK, CKI, EK, choline kinase alpha
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CHKA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCHKA, CHK, CK, CKI, EK, choline kinase alpha
External IDsOMIM: 118491; MGI: 107760; HomoloGene: 88575; GeneCards: CHKA; OMA:CHKA - orthologs
EC number2.7.1.82
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001025566
NM_001271496
NM_013490

RefSeq (protein)

NP_001258425
NP_038518

Location (UCSC)Chr 11: 68.05 – 68.12 MbChr 19: 3.85 – 3.89 Mb
PubMed search[3][4]
Wikidata
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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]

References

Further reading

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