rs757480516

This variant is located in the PDXK gene.

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ClinVar annotation

Pathogenic★★★☆
3 submitters2 publications

Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy; PDXK-related disorder

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About PDXK

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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