PDXK.1

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.

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.

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.

Belongs to the pyridoxine kinase family.

Ubiquitous (PubMed:31187503, PubMed:9099727). Highly expressed in testis (PubMed:9099727).

Isoform 3

In adult testis and spermatozoa.

• Cytoplasm
• Cytosol

C21orf124, C21orf97, PKH, PNK, PRED79, PDXK, Pyridoxal kinase, Pyridoxine kinase

• entrezGene:8566
• omim:179020
• swissprot:O00764

Proteins

Immunology & Infectious Disease

35102Da