基因注释：HAP1
官方信息
官方名称：huntingtin associated protein 1
功能摘要：Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
作为靶基因的剪接因子
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Srsf3 综合评分: 0.248 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- Srsf4 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
关联疾病
该基因暂无关联疾病记录