🧬 基因注释:P4HB
官方名称:prolyl 4-hydroxylase subunit beta
功能摘要: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].
- HNRNPC 综合评分: 0.592 · 证据 2 条
- RBFOX2 综合评分: 0.486 · 证据 2 条
- PTBP1 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.465 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPM 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- Srsf3 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- TIA1 综合评分: 0.374 · 证据 1 条
- Srsf2 综合评分: 0.362 · 证据 1 条
- Nova2 综合评分: 0.360 · 证据 1 条
- Rnps1 综合评分: 0.353 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Mbnl2 综合评分: 0.324 · 证据 1 条
- UPF1 综合评分: 0.314 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
该基因暂无关联疾病记录