ARL13B

ARL13B

A gene on chromosome 3q11.1 that encodes a GTP-binding protein of the ADP-ribosylation factor-like family, which participates in small GTPase-mediated signal transduction.

Molecular pathology
ARL13B mutations cause Joubert syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
These genes can be listed as follows: AHI1, ARL13B, C5ORF42, CC2D2A, CEP41, CEP290, INPP5E, KIF7, MKS1, NPHP1, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, and TMEM23 [3].
According to this initial report and other following reports, autosomal recessive inheritance has been deduced for JS and mutations in the eight ciliary/basal body genes, including INPP5E, AHI1, NPHP1, CEP290, TMEM67/MKS3, RPGRIP1L, ARL13B, and CC2D2A have been recognized in patients with JS.