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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: ADP-ribosylation factor like GTPase 13B; ADP-ribosylation factor-like 13B; ADP-ribosylation factor-like 2-like 1; ADP-ribosylation factor-like protein 13B; ADP-ribosylation factor-like protein 2-like 1; ARL2-like protein 1
基因别名: ARL13B; ARL2L1; JBTS8
UniProt ID: (Human) Q3SXY8
Entrez Gene ID: (Human) 200894, (Rat) 304037