Gene Symbol | ARL13B |
Entrez Gene ID | 200894 |
Full Name | ADP ribosylation factor like GTPase 13B |
Synonyms | ARL2L1,JBTS8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 8, 612291 (3) |