ARL6 Antibody – Rabbit Polyclonal

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]

ARL6: 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. 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. Defects in ARL6 are a cause of Bardet-Biedl syndrome type 3 (BBS3). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder 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. Defects in ARL6 are the cause of retinitis pigmentosa type 55 (RP55). RP55 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 3q11.2

Cellular Component: membrane coat; membrane; cytoplasm; plasma membrane; axoneme; cytosol; cilium

Molecular Function: protein binding; GTP binding; metal ion binding; phospholipid binding

Biological Process: fat cell differentiation; protein polymerization; Wnt receptor signaling pathway; visual perception; small GTPase mediated signal transduction; organelle organization and biogenesis; cilium biogenesis; brain development; intermembrane transport; determination of left/right symmetry; protein targeting to membrane; melanosome transport; regulation of smoothened signaling pathway

Disease: Retinitis Pigmentosa 55; Bardet-biedl Syndrome 3; Bardet-biedl Syndrome 1; Retinitis Pigmentosa