Gene: ARL6

Alternate names for this Gene: BBS3|RP55

Gene 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).

Gene is located in Chromosome: 3

Location in Chromosome : 3q11.2

Description of this Gene: ADP ribosylation factor like GTPase 6

Type of Gene: protein-coding

rs104893679 in ARL6 gene and Bardet-Biedl syndrome 3 PMID 23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

PMID 15258860 2004 Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

PMID 15314642 2004 Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

rs1559679965 in ARL6 gene and RETINITIS PIGMENTOSA 55 PMID 15258860 2004 Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.

rs771054395 in ARL6 gene and Retinitis Pigmentosa PMID 23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.