ARL13B Antibody – Rabbit Polyclonal

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

ARL13B: Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: G protein, monomeric, ARF; G protein, monomeric

Chromosomal Location of Human Ortholog: 3q11.1

Cellular Component: axoneme; cilium; intracellular

Molecular Function: GTP binding; protein binding

Biological Process: cilium biogenesis; dorsal/ventral pattern formation; formation of radial glial scaffolds; heart looping; interneuron migration from the subpallium to the cortex; neural tube patterning; sensory cilium biogenesis; small GTPase mediated signal transduction; smoothened signaling pathway

Disease: Joubert Syndrome 8