🧬 基因注释：CAPNS1

官方名称：calpain small subunit 1

功能摘要：This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].

• HNRNPK 综合评分: 0.444 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• Mbnl2 综合评分: 0.374 · 证据 1 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• Srsf3 综合评分: 0.362 · 证据 1 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PRPF8 综合评分: 0.324 · 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
• PTBP1 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• MBNL2 综合评分: 0.298 · 证据 1 条
• PCBP2 综合评分: 0.298 · 证据 1 条
• GRSF1 综合评分: 0.274 · 证据 2 条
• Nova2 综合评分: 0.262 · 证据 1 条
• Ptbp2 综合评分: 0.262 · 证据 1 条

该基因暂无关联疾病记录