该基因编码的产物属于肌动蛋白家族,是一种高度保守的蛋白质,在细胞的运动、结构和完整性中起着重要作用。α、β和γ肌动蛋白亚型已被鉴定,α肌动蛋白是收缩装置的主要组成部分,而β和γ肌动蛋白参与细胞运动的调节。这种肌动蛋白是骨骼肌中发现的α肌动蛋白。该基因突变可导致3型向列型肌病、先天性肌病(肌丝过细)、先天性肌病(带核)、先天性肌病(纤维型比例失调)、导致肌纤维缺陷的疾病。
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects.

基因名:ACTA1
别名:ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3,SHPM
基因ID:58
Chromosome:
(GRCh37)
1 Start: 229566992 End: 229569845 Strand: -1
信号通路:  
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