🧬 基因注释:MYO3A
官方名称:myosin IIIA
功能摘要:The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008].
- CPSF4 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- FUBP1 置信度: 2.0
- HNRNPM 置信度: 2.0
- KHSRP 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF2 置信度: 1.0
- Larp7 置信度: 1.0
- Mbnl2 置信度: 1.0
- NXF1 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf4 置信度: 1.0
该基因暂无关联疾病记录