Entrez gene ID | | 5034 |
Official gene symbol | | P4HB |
Full name | | prolyl 4-hydroxylase, beta polypeptide |
Aliases | | ,DSI,ERBA2L,GIT,P4Hbeta,PDI,PDIA1,PHDB,PO4DB,PO4HB,PROHB, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17q25 |
Gene position | | 79818544 - 79801034 Map Viewer |
Gene orientation | | minus |
Gene size | | 17511 bp |
Gene sequence |
| |
OMIM ID | | 176790 |
|