ARL6 Human; ADP-Ribosylation Factor-Like 6 Human Recombinant; ADP-ribosylation factor-like 6; Bardet-Biedl syndrome 3 protein; BBS3; RP55; MGC32934

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 90.0% as determined by SDS-PAGE.

ARL6 protein solution (0.5mg/1ml) containing 20mM Tris-HCl buffer (pH8.0), 20% glycerol, 0.2M NaCl and 5mM DTT.
Sterile Filtered clear solution.

Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.

Small volumes of ARL6 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Description: ARL6 Human Recombinant produced in E Coli is a single, non-glycosylated polypeptide chain containing 206 amino acids (1-186a.a) and having a molecular mass of 23.2kDa.ARL6 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Introduction: ARL6 is a member of the ARF family of GTP-binding proteins. ARL6 has a vital part in modulating membrane trafficking and cytoskeletal functions. Mutation in ARL6 is the source of Bardet-Biedl syndrome (BBS3) which is a pleiotropic genetic disorder that causes obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnor-malities and developmental delay.

RECOMBINANT & NATURAL PROTEINS; Recombinant Proteins; ADP-Ribosylation Factor

21,960 Da

ADP-ribosylation factor-like 6

ADP-ribosylation factor-like protein 6; Bardet-Biedl syndrome 3 protein

ADP-ribosylation factor-like protein 6

BBS3??[Similar Products]

ARL6_HUMAN

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

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