Entrez gene ID | | 200894 |
Official gene symbol | | ARL13B |
Full name | | ADP-ribosylation factor-like 13B |
Aliases | | ,ARL2L1,DKFZp686E2075,DKFZp686L2472,DKFZp686M2074,DKFZp761H079,JBTS8,MGC120611,MGC120612, |
Gene 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] |
Location | | Chromosome: 3 Locus: 3q11.1 |
Gene position | | 93698983 - 93774522 Map Viewer |
Gene orientation | | plus |
Gene size | | 75540 bp |
Gene sequence |
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OMIM ID | | 608922 |