ARL6 ADP ribosylation factor like GTPase 6
Gene ID: 84100, updated on 5-Mar-2024Gene type: protein coding
Also known as: BBS3; RP55
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- Go to complete Gene record for ARL6
- Go to Variation Viewer for ARL6 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bardet-Biedl syndrome 1 | See labs |
| Bardet-Biedl syndrome 3 | See labs |
| Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. GeneReviews: Not available | |
| Retinitis pigmentosa | See labs |
| Retinitis pigmentosa 55 | See labs |
Genomic context
- Location:
- 3q11.2
- Sequence:
- Chromosome: 3; NC_000003.12 (97764521..97801242)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARL6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARL6 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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