Aliases for ARL6 Gene
External Ids for ARL6 Gene
Previous HGNC Symbols for ARL6 Gene
Previous GeneCards Identifiers for ARL6 Gene
The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
GeneCards Summary for ARL6 Gene
ARL6 (ADP Ribosylation Factor Like GTPase 6) is a Protein Coding gene. Diseases associated with ARL6 include Bardet-Biedl Syndrome 3 and Retinitis Pigmentosa 55. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is ARL5B.
UniProtKB/Swiss-Prot for ARL6 Gene
Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).