🧬 基因注释：LMNA

官方名称：lamin A/C

功能摘要：The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022].

• SRSF2 综合评分: 0.424 · 证据 1 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.362 · 证据 1 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• fus 综合评分: 0.362 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPH1 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
• Rnps1 综合评分: 0.314 · 证据 1 条
• TIA1 综合评分: 0.312 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 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
• SRSF9 综合评分: 0.300 · 证据 1 条
• Srsf2 综合评分: 0.300 · 证据 1 条
• NOVA1 综合评分: 0.262 · 证据 2 条

该基因暂无关联疾病记录