🧬 基因注释：NCSTN

官方名称：nicastrin

功能摘要：This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014].

• Srsf3 综合评分: 0.362 · 证据 1 条
• Tardbp 综合评分: 0.356 · 证据 1 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 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
• PRPF8 综合评分: 0.324 · 证据 1 条
• FUBP1 综合评分: 0.312 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• NOVA1 综合评分: 0.298 · 证据 2 条
• PCBP1 综合评分: 0.298 · 证据 2 条
• U2af1 综合评分: 0.294 · 证据 1 条
• Srsf1 综合评分: 0.274 · 证据 1 条

该基因暂无关联疾病记录