🧬 基因注释：ACTN1

官方名称：actinin alpha 1

功能摘要：Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

• Srsf3 综合评分: 0.460 · 证据 1 条
• HNRNPC 综合评分: 0.448 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.398 · 证据 1 条
• RBFOX2 综合评分: 0.398 · 证据 2 条
• fus 综合评分: 0.398 · 证据 1 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
• ELAVL3 综合评分: 0.329 · 证据 1 条
• Tardbp 综合评分: 0.324 · 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
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 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
• CSTF2 综合评分: 0.274 · 证据 2 条

该基因暂无关联疾病记录