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ARL6

ARL6

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ARL6 gene?

The official name of this gene is “ADP-ribosylation factor-like 6.”

ARL6 is the gene's official symbol. The ARL6 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ARL6 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper retinal function and organization.

How are changes in the ARL6 gene related to health conditions?

Genetics Home Reference provides information about Bardet-Biedl syndrome, which is associated with changes in the ARL6 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ARL6 gene's known or predicted involvement in human disease.

Bardet-Biedl syndrome 3 (BBS3): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ARL6 gene.
  • Bardet-Biedl syndrome[1]This link leads to a site outside Genetics Home Reference.
  • Retinitis pigmentosa[2]This link leads to a site outside Genetics Home Reference.
  • Retinitis pigmentosa 55[3]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]
[3]

Where is the ARL6 gene located?

Cytogenetic Location: 3q11.2

Molecular Location on chromosome 3: base pairs 97,764,520 to 97,801,241

The ARL6 gene is located on the long (q) arm of chromosome 3 at position 11.2.

The ARL6 gene is located on the long (q) arm of chromosome 3 at position 11.2.

More precisely, the ARL6 gene is located from base pair 97,764,520 to base pair 97,801,241 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ARL6?

You and your healthcare professional may find the following resources about ARL6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ARL6 gene or gene products?

  • BBS3
  • RP55

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ARL6?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 28, 2014