ADP-Ribosylation Factor-Like 6

Alternative Names

  • ARL6
  • ARF-Like 6
  • BBS3 Gene
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OMIM Number

608845

NCBI Gene ID

84100

Uniprot ID

Q9H0F7

Length

50,005 bases

No. of Exons

14

No. of isoforms

2

Protein Name

ADP-Ribosylation Factor-Like Protein 6

Molecular Mass

21097 Da

Amino Acid Count

186

Genomic Location

chr3:97,762,580-97,812,584

Gene Map Locus
3q11.2

Description

The ARL6 gene encodes a GTP binding protein involved in intracellular traffic regulation and protein localization to non-motile primary cilium.  GTP binding by ARL6 is essential for the localization of the ciliary membrane BBSome complex consisting of 7 BBS proteins and BBIP10.  ARL6 is also thought to be involved in the key biological processes of GTPase mediated signal transduction, Smoothened signaling pathway regulation, determination of left/right symmetry and fat cell differentiation.

Due to its cellular roles, ARL6 is believed to affect retinal layer formation, visual perception and brain development.  Hence, mutations in this gene can have strong pathological consequences.  Gene defects are associated with Bardet-Biedl syndrome 3 (BBS3), a multi-system ciliopathy characterized by pigmentary retinopathy, polydactyly, polycystic kidneys, hypogenitalism, obesity, and learning disabilities.  The gene has also been implicated in non-syndromic Retinitis Pigmentosa 55 (RP55), a retinal dystrophy characterized by the loss of photoreceptor cells.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001278293.3:c.266C>TSaudi Arabiachr3:97784966PathogenicPathogenicRetinitis Pigmentosa 55NG_008119.2:g.25216C>T; NM_001278293.3:c.266C>T; NP_001265222.1:p.Ala89Val5877778052045
NM_001278293.3:c.362G>ASaudi ArabiaNC_000003.12:g.97788002G>ALikely Pathogenic, Uncertain SignificanceLikely PathogenicRetinitis Pigmentosa 55NG_008119.2:g.28252G>A; NM_001278293.3:c.362G>A; NP_001265222.1:p.Arg121His765715798191178
NM_001278293.3:c.431C>TSaudi ArabiaNC_000003.12:g.97788071C>TPathogenicBardet-Biedl Syndrome 3NG_008119.2:g.28321C>T; NM_001278293.3:c.431C>T; NP_001265222.1:p.Ser144Phe
NM_001278293.3:c.480-1700_535+2392delSaudi ArabiaNC_000003.12:g.97790071_97794218delPathogenicBardet-Biedl Syndrome 3NM_001278293.3:c.480-1700_535+2392del
NM_001278293.3:c.535+80A>GSaudi ArabiaNC_000003.12:g.97791906A>GBenignNG_008119.2:g.32156A>G; NM_001278293.3:c.535+80A>G72934163
NM_032146.5:c.68T>CLebanonchr3:97768175PathogenicBardet-Biedl Syndrome 3NG_008119.2:g.8425T>C NP_816931.1:p.Leu23Pro1359075294
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