CHKA Chromosome 11
Choline kinase alpha
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Choline kinase family
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000110721
Associated Conditions (6)
Microcephaly
Severe intellectual disability
Seizure
Neurodevelopmental disorder with microcephaly
movement abnormalities
and seizures
Key Variants
RS2134518071
Likely pathogenic
Microcephaly, Severe intellectual disability, Seizure
Health Risk
RS2153034844
Likely pathogenic
Microcephaly, Severe intellectual disability, Seizure
Health Risk
RS763056271
Likely pathogenic
Microcephaly, Severe intellectual disability, Seizure
Health Risk
RS765529707
Likely pathogenic
Microcephaly, Severe intellectual disability, Seizure
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2134518071 | Health Risk | Likely pathogenic | Microcephaly, Severe intellectual disability, Seizure |
| RS2153034844 | Health Risk | Likely pathogenic | Microcephaly, Severe intellectual disability, Seizure |
| RS763056271 | Health Risk | Likely pathogenic | Microcephaly, Severe intellectual disability, Seizure |
| RS765529707 | Health Risk | Likely pathogenic | Microcephaly, Severe intellectual disability, Seizure |