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MAHCX
Chr XXLRhost cell factor C1
Also known as: CFF, HCF, HCF-1, HCF1, HFC1, MAHCX, MRX3, PPP1R89
The protein functions as a nuclear coactivator involved in cell cycle control and transcriptional regulation, containing Kelch repeats and HCF repeats that undergo proteolytic cleavage to form functional N- and C-terminal chains. Mutations cause methylmalonic aciduria and homocysteinemia, cblX type, which involves defects in vitamin B12 metabolism affecting multiple organ systems. This condition follows X-linked recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MAHCX?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
MAHCX · 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 publications found for MAHCX
External Resources
Links to major genomics databases and tools