The gene prolyl 4-hydroxylase subunit ß (P4HB) is mapped to human chromosome 17q25. It belongs to the family of soluble oxidoreductases. The protein is present at the cell surface of B cells, platelets, pancreatic cells and hepatocytes. The protein localizes in the endoplasmic reticulum and at the cell surface. P4HB is also called as PDI (protein disulfide isomerase).
Synonyms: Anti-Cellular thyroid hormone-binding protein; Anti-PDI; Anti-Prolyl 4-hydroxylase subunit beta; Anti-Protein disulfide-isomerase; Anti-p55
Storage: -20C
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Biochem Physiol Actions: Prolyl 4-hydroxylase subunit ß (P4HB) is involved in the formation of disulfide bonds. In addition, it binds polypeptide chains and work as a chaperone, thereby helping in folding of polypeptides. It also works as a subunit of prolyl 4-hydroxylase (P4H). Impairment in disulfide isomerase activity of P4HB is associated with Cole-Carpenter syndrome. Single nucleotide polymorphism in P4HB is associated with amyotrophic lateral sclerosis. P4HB is up-regulated in presence of hypoxia in astrocytes. It works together with ubiquilin in protecting neurons against apoptosis.
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