Gene Symbol | ARL6 |
Entrez Gene ID | 84100 |
Full Name | ADP ribosylation factor like GTPase 6 |
Synonyms | BBS3,RP55 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Bardet-Biedl syndrome 3, 600151 (3); {Bardet-Biedl syndrome 1, modifier of}, 209900 (3); ?Retinitis pigmentosa 55, 613575 (3) |