🧬 基因注释:CST3
官方名称:cystatin C
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 the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014].
- HNRNPC 综合评分: 0.448 · 证据 2 条
- PTBP1 综合评分: 0.424 · 证据 2 条
- RBFOX2 综合评分: 0.424 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 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: 0.344 · 证据 1 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- Nova2 综合评分: 0.262 · 证据 1 条
- PCBP1 综合评分: 0.262 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- UPF1 综合评分: 0.224 · 证据 1 条
- ACIN1 综合评分: 0.212 · 证据 2 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- TFIP11 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
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