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HMSN6C
Chr 21ARpyridoxal kinase
Also known as: C21orf124, C21orf97, HEL-S-1a, HMSN6C, PKH, PNK, PRED79
The protein phosphorylates vitamin B6 to convert it to pyridoxal-5-phosphate, an essential cofactor in intermediary metabolism, and functions as a cytoplasmic homodimer. Mutations cause hereditary motor and sensory neuropathy type VIC with optic atrophy, following autosomal recessive inheritance. This condition affects both the peripheral nervous system and visual pathways.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HMSN6C?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
HMSN6C · 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
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External Resources
Links to major genomics databases and tools