ADP-ribosylation factor-like protein 6; Bardet-Biedl syndrome 3 protein; ARL6; BBS3

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

The synthetic peptide sequence used to generate the antibody was selected from the N-term region of human ARL6. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.

The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of ARL6 blocking peptide 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.

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 (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).

21,960 Da

ADP ribosylation factor like GTPase 6

ADP-ribosylation factor-like protein 6

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). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]

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, ARF; G protein, monomeric

Chromosomal Location of Human Ortholog: 3q11.2

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

Molecular Function: phospholipid binding; protein binding

Biological Process: cilium biogenesis; determination of left/right symmetry; melanosome transport; protein polymerization; protein targeting to membrane; Wnt receptor signaling pathway

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

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