基因名:
PDXK
产品别名:
C21orf124; C21orf97; HEL-S-1a; HMSN6C; PKH; PNK; PRED79; PDXK; pyridoxal kinase; pyridoxal kinase; pyridoxal kinase; epididymis secretory sperm binding protein Li 1a; pyridoxal (pyridoxine, vitamin B6) kinase; pyridoxamine kinase; pyridoxine kinase; vitamin B6 kinase; 吡哆醛激酶; 吡哆醛激酶(PDXK);
背景信息:
Pyridoxal kinase belongs to the pyridoxine kinase family and phosphorylates vitamin B6, a step necessary for the conversion of vitamin B6 to pyridoxal 5’ phosphate (PLP), the active form of vitamin B6. PLP acts as a coenzyme and functions to maintain homeostasis. Pyridoxal kinase is a 312-amino acid cytoplasmic protein that may act as a homodimer and is expressed ubiquitously. There are three known isoforms of pyridoxal kinase, and isoform 3 expression is observed in adult testis and spermatozoa. The optimum pH for pyridoxal kinase is between 5.5 and 6.0. PDXK, the gene that encodes the pyridoxal kinase protein, maps to chromosome 21q22.3 and may be a candidate gene for autoimmune polyglandular disease type 1, a genetic disorder that has been mapped to the same region on chromosome 21.