🧬 基因注释：CYP7B1
官方名称：cytochrome P450 family 7 subfamily B member 1
功能摘要：This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016].
- MBNL2 综合评分: 0.374 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.294 · 证据 1 条
- Srsf4 综合评分: 0.294 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- Srsf2 综合评分: 0.248 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- ELAVL3 综合评分: 0.100 · 证据 1 条
- Larp7 综合评分: 0.100 · 证据 1 条
- NXF1 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录