🧬 基因注释：CSTB
官方名称：cystatin B
功能摘要：The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016].
- HNRNPC 综合评分: 0.474 · 证据 2 条
- RBFOX2 综合评分: 0.474 · 证据 2 条
- FUS 综合评分: 0.424 · 证据 1 条
- PTBP1 综合评分: 0.424 · 证据 2 条
- Srsf3 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- Tardbp 综合评分: 0.403 · 证据 1 条
- TIA1 综合评分: 0.394 · 证据 1 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- U2af2 综合评分: 0.336 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- ELAVL3 综合评分: 0.306 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- ACIN1 综合评分: 0.294 · 证据 2 条
- U2af1 综合评分: 0.294 · 证据 1 条
- Rnps1 综合评分: 0.274 · 证据 1 条
- Rbmx 综合评分: 0.260 · 证据 1 条
该基因暂无关联疾病记录