Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ADP-ribosylation factor-like protein 13B

The ARL13B gene encodes a GTPase that has a function in cilia formation and maintenance. Mutations cause autosomal recessive Joubert syndrome 8.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 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 08
ARL13B

References:

1.

Humbert MC et al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

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2.

Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

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3.

Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

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4.

Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

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5.

Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

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6.

Sun Z et al. (2004) A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.

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7.

Caspary T et al. (2007) The graded response to Sonic Hedgehog depends on cilia architecture.

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8.

Orphanet article

Orphanet ID 179401 [^]
9.

NCBI article

NCBI 200894 [^]
10.

OMIM.ORG article

Omim 608922 [^]
11.

Wikipedia article

Wikipedia EN (ARL13B) [^]
Update: April 29, 2019