ARL13B( Human )

Entrez Gene 200894 Entrez Gene 200894
ADP ribosylation factor like GTPase 13B

Alias

ARL2L1|JBTS8

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].

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