ARL6 Antibody – Goat Polyclonal

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; G protein, monomeric; G protein, monomeric, ARF

Cellular Component: cell projection; cilium; cytoplasm; cytoskeleton; cytosol; intracellular; membrane; plasma membrane

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

Biological Process: brain development; cell projection organization and biogenesis; cilium biogenesis; intermembrane transport; protein amino acid ADP-ribosylation; protein transport; Ras protein signal transduction; regulation of smoothened signaling pathway; small GTPase mediated signal transduction; transport; Wnt receptor signaling pathway

Disease: Bardet-biedl Syndrome 1