P4HB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human P4HB wild-type allele is located in the vicinity of 17q25.3 and is approximately 18 kb in length. This allele, which encodes protein disulfide-isomerase protein, is involved in nacent protein disulfide bond formation, microsomal triglyceride transport and the formation of hydroxyproline in collagens. Mutations in the gene are associated with Cole-Carpenter syndrome 1.

**Synonyms:** - CLCRP1 - Collagen Prolyl 4-Hydroxylase Beta Gene - DSI - Disulfide Isomerase Gene - ERBA2L - GIT - Glutathione-Insulin Transhydrogenase Gene - P4Hbeta - PDI - PDIA1 - PHDB - PO4DB - PO4HB - PROHB - Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase-Associated 1) Gene - Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide (Protein Disulfide Isomerase; Thyroid Hormone Binding Protein p55) Gene - Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase (Proline 4-Hydroxylase), Beta Polypeptide Gene; Protein Disulfide Isomerase Family A, Member 1 Gene - Procollagen-Proline, 2-Oxoglutarate 4-Dioxygenase, Beta Subunit Gene - Prolyl 4-Hydroxylase Subunit Beta wt Allele - Prolyl 4-Hydroxylase, Beta Polypeptide Gene - Prolyl 4-Hydroxylase, Beta Subunit Gene - Protein Disulfide Isomerase-Associated 1 Gene - Protein Disulfide Isomerase/Oxidoreductase Gene - Protocollagen Hydroxylase Gene - Testicular Secretory Protein Li 32 Gene - Thyroid Hormone-Binding Protein p55 Gene