ARL6 Antibody

1. Mutations of the ARL6 gene cause Bardet-Biedl syndrome, a heterogeneous disorder that increases the risk of Hypertension and Diabetes mellitus. PMID: 27271309
2. Elevated levels of serum ARL6 were able to discriminate between excessive alcohol users and controls. PMID: 25704570
3. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
4. The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome. ARL6 E108A mutation prevents BBSome recruitment to cilia. PMID: 25402481
5. Arl6 is indispensable in cilia signaling but dispensable in ciliogenesis (Review). PMID: 23548655
6. BBS3 A89V is sufficient to rescue the transport delays induced by the loss of BBS3 but was unable to rescue vision impairment PMID: 21282186
7. Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. PMID: 20207729
8. the first null mutation reported in BBS3 gene in patient with Bardet-Biedl syndrome PMID: 20142850
9. These data demonstrate that the BBS3L transcript is required for proper retinal function and organization. PMID: 20333246
10. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. PMID: 15314642
11. These findings implicate that Arl6 mutants are destabilized and eliminated by the proteasome in cells, probably due to the altered nucleotide-binding properties. PMID: 19236846

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HGNC: 13210

OMIM: 600151

KEGG: hsa:84100

STRING: 9606.ENSP00000337722

UniGene: Hs.373801