靶标:
DNAH8
产品别名:
ATPase; SPGF46; hdhc9; DNAH8; dynein axonemal heavy chain 8; dynein axonemal heavy chain 8; dynein axonemal heavy chain 8; axonemal beta dynein heavy chain 8; ciliary dynein heavy chain 8; dynein heavy chain 8, axonemal; dynein, axonemal, heavy polypeptide 8; 轴丝动力蛋白8;
背景信息:
Dyneins are microtubule-associated motor protein complexes that are composed of several heavy, light, and intermediate chains. Dynein ATPases are the largest known cytoskeletal motors and perform critical functions in cells: carrying cargo along microtubules in the cytoplasm and powering flagellar beating. Simple adjustments to the variant filtering parameters further allowed the identification of a homozygous truncating mutation in a presumptive new PCD gene, DNAH8. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.