基因名:
Arl13b
产品别名:
A530097K21Rik; A930014M17Rik; Arl2l1; C530009C10Rik; hnn; Arl13b; ADP-ribosylation factor-like 13B; ADP-ribosylation factor-like 13B; ADP-ribosylation factor-like protein 13B; ADP-ribosylation factor-like 2-like 1; ARL2-like protein 1; protein hennin; ADP核糖基化因子样蛋白13b;
背景信息:
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]