Gene Symbol | P4HB |
Entrez Gene ID | 5034 |
Full Name | prolyl 4-hydroxylase subunit beta |
Synonyms | CLCRP1,DSI,ERBA2L,GIT,P4Hbeta,PDI,PDIA1,PHDB,PO4DB,PO4HB,PROHB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cole-Carpenter syndrome 1, 112240 (3) |