基因名:
PLPBP
产品别名:
EPVB6D; PROSC; PLPBP; pyridoxal phosphate binding protein; pyridoxal phosphate binding protein; pyridoxal phosphate homeostasis protein; PLP homeostasis protein; proline synthase co-transcribed bacterial homolog protein; proline synthetase co-transcribed bacterial homolog protein; PROSC蛋白;
背景信息:
PROSC is a 275 amino acid ubiquitously expressed enzyme that is highly conserved from bacteria to mammals. The gene encoding PROSC is cotranscribed with proline sythetase. PROSC requires the cofactor pyridoxal phosphate, the active form of vitamin B6 that acts in all transamination reactions. The PROSC gene maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.