PDXK Chromosome 21
Pyridoxal kinase
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What This Gene Does
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]
Associated Conditions (5)
Neuropathy
hereditary motor and sensory
type VIc
with optic atrophy
PDXK-related disorder
Key Variants
RS1601814238
Likely pathogenic
Neuropathy, hereditary motor and sensory, type VIc
Health Risk
RS2517090850
Pathogenic
Health Risk
RS757480516
Pathogenic
Neuropathy, hereditary motor and sensory, type VIc
Health Risk
RS759333796
Pathogenic
Neuropathy, hereditary motor and sensory, type VIc
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1601814238 | Health Risk | Likely pathogenic | Neuropathy, hereditary motor and sensory, type VIc |
| RS2517090850 | Health Risk | Pathogenic | — |
| RS757480516 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type VIc |
| RS759333796 | Health Risk | Pathogenic | Neuropathy, hereditary motor and sensory, type VIc |