🧬 基因注释：SNAPIN
官方名称：SNAP associated protein
功能摘要：The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012].
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- RBM10 置信度: 2.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- Rnps1 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf7 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
- UPF1 置信度: 1.0
该基因暂无关联疾病记录