🧬 基因注释：SACS

官方名称：sacsin molecular chaperone

功能摘要：This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that 'the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins' (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].

• FUS 综合评分: 0.398 · 证据 1 条
• fus 综合评分: 0.398 · 证据 1 条
• MBNL2 综合评分: 0.374 · 证据 1 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPF 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
• 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
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• FUBP1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM39 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条

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