ARL6

Chr 3

ARF like GTPase 6

Also known as: BBS3, RP55

NCBI Gene: 84100 ENSG00000113966 UniProt: Q9H0F7

The protein regulates membrane protein trafficking to primary cilia and controls assembly of the BBSome complex, which is essential for proper ciliary function and signaling pathways including sonic hedgehog and Wnt. Mutations cause Bardet-Biedl syndrome, a multisystem ciliopathy affecting vision, kidney function, obesity, and intellectual development, as well as isolated retinitis pigmentosa. Inheritance is autosomal recessive.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBardet-Biedl syndrome 3

UniProtRetinitis pigmentosa 55

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.92

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ARL6