🧬 基因注释：ACTG1
官方名称：actin gamma 1
功能摘要：Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017].
- HNRNPC 综合评分: 0.626 · 证据 2 条
- FUS 综合评分: 0.536 · 证据 1 条
- fus 综合评分: 0.536 · 证据 1 条
- Tardbp 综合评分: 0.533 · 证据 1 条
- TIA1 综合评分: 0.446 · 证据 1 条
- MBNL2 综合评分: 0.429 · 证据 1 条
- PTBP1 综合评分: 0.424 · 证据 2 条
- RBFOX2 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPF 综合评分: 0.412 · 证据 2 条
- HNRNPM 综合评分: 0.412 · 证据 2 条
- KHSRP 综合评分: 0.398 · 证据 2 条
- Srsf3 综合评分: 0.398 · 证据 1 条
- CELF2 综合评分: 0.398 · 证据 2 条
- ELAVL3 综合评分: 0.384 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPU 综合评分: 0.362 · 证据 2 条
- Srsf2 综合评分: 0.362 · 证据 1 条
- Rnps1 综合评分: 0.353 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
该基因暂无关联疾病记录