Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ADP-ribosylation factor-like protein 3

The ARL3 gene encodes an enzyme that plays a role in normal cilia function. Mutations cause autosomal recessive Joubert syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 35
ARL3

References:

1.

Ismail SA et. al. (2011) Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo.

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2.

Cavenagh MM et. al. (1994) ADP-ribosylation factor (ARF)-like 3, a new member of the ARF family of GTP-binding proteins cloned from human and rat tissues.

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3.

None (1998) Assignment of the human ADP-ribosylation factor-like 3 (ARL3) gene to chromosome 10 band q23.3 by radiation hybrid mapping.

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4.

Grayson C et. al. (2002) Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

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5.

Zhou C et. al. (2006) Arl2 and Arl3 regulate different microtubule-dependent processes.

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6.

Schrick JJ et. al. (2006) ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.

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7.

Veltel S et. al. (2008) The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.

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8.

Veltel S et. al. (2008) Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.

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9.

Alkanderi S et. al. (2018) ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

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Update: Oct. 11, 2018