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MDCMC
Chr 22ARcholine kinase beta
Also known as: CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC
The protein encoded by this gene functions as both a choline kinase and ethanolamine kinase, catalyzing the first step in phosphatidylcholine and phosphatidylethanolamine biosynthesis in all animal cells. Mutations cause autosomal recessive megaloblastic anemia with developmental delay and neurological abnormalities. This gene has a GeneReviews entry indicating established clinical significance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MDCMC?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MDCMC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools