PDXK
Function
Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probable) (PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503, PubMed:9099727). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.
Involvement in disease
Neuropathy, hereditary motor and sensory, 6C, with optic atrophy
HMSN6C
An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxal: step 1/1.
Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxine 5'-phosphate from pyridoxine: step 1/1.
Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxamine 5'-phosphate from pyridoxamine: step 1/1.
Sequence Similarities
Belongs to the pyridoxine kinase family.
Tissue Specificity
Ubiquitous (PubMed:31187503, PubMed:9099727). Highly expressed in testis (PubMed:9099727).
Isoform 3
In adult testis and spermatozoa.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
C21orf124, C21orf97, PKH, PNK, PRED79, PDXK, Pyridoxal kinase, Pyridoxine kinase