🧬 基因注释：CYB5R3
官方名称：cytochrome b5 reductase 3
功能摘要：This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010].
- RBFOX2 综合评分: 0.460 · 证据 2 条
- HNRNPK 综合评分: 0.424 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- PCBP2 综合评分: 0.360 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- Tardbp 综合评分: 0.324 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- Rnps1 综合评分: 0.306 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- UPF1 综合评分: 0.286 · 证据 1 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- YBX1 综合评分: 0.260 · 证据 1 条
该基因暂无关联疾病记录