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Details for Product No. ABIN350532

Ocular Albinism Type 1 Protein (G Protein-Coupled Receptor 143 Or GPR143, OA1) (3d) (Cytoplasmic Domain) antibody

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Cytoplasmic Domain
Clonality Polyclonal
Immunohistochemistry (IHC), Western Blotting (WB)
Pubmed 8 references available
Catalog no. ABIN350532
Quantity 100 µL
454.67 $   Plus shipping costs $45.00
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Immunogen A synthetic peptide from the 3d cytoplasmic domain of human ocular albinism type 1 protein (G protein-coupled receptor 143 or GPR143, OA1) conjugated to an immunogenic carrier protein was used as the immunogen.
Specificity Appears to be specific for OA1.
Purification Immunoaffinity chromatography
Purity whole serum
Background Ocular albinism type 1 protein is a conserved integral membrane protein with seventransmembrane domains. It is expressed in the eye and epidermal melanocytes.
Function: Not known, binds heterotrimeric G proteins.
Subcellular location: Melanosome membrane, Multi-pass membrane protein. Note: Targeted to intracellular organelles, namely the melanosomes in pigment cells.
Tissue specificity: Exclusively expressed in pigment cells. DISEASE: Defects in GPR143 are the cause of ocular albinism type 1 (OA1), also known as Nettleship-Falls type ocular albinism. OA1 is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. Also known as: G-protein coupled receptor 143, ocular albinism type 1 protein, GPR143, OA1.
UniProt P51810
Application Notes IHC, WB. A dilution of 1 : 300 to 1 : 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.
Restrictions For Research Use only
Format Lyophilized
Storage -20 °C
Bassi, Schiaffino, Renieri et al.: "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome." in: Nature genetics, Vol. 10, Issue 1, pp. 13-9, 1995 (PubMed).

Schiaffino, Bassi, Galli et al.: "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism." in: Human molecular genetics, Vol. 4, Issue 12, pp. 2319-25, 1996 (PubMed).

Schnur, Gao, Wick et al.: "OA1 mutations and deletions in X-linked ocular albinism." in: American journal of human genetics, Vol. 62, Issue 4, pp. 800-9, 1998 (PubMed).

Oetting, King: "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism." in: Human mutation, Vol. 13, Issue 2, pp. 99-115, 1999 (PubMed).

Schiaffino, dAddio, Alloni et al.: "Ocular albinism: evidence for a defect in an intracellular signal transduction system." in: Nature genetics, Vol. 23, Issue 1, pp. 108-12, 1999 (PubMed).

Bassi, Bergen, Bitoun et al.: "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America." in: Human genetics, Vol. 108, Issue 1, pp. 51-4, 2001 (PubMed).

Basrur, Yang, Kushimoto et al.: "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins." in: Journal of proteome research, Vol. 2, Issue 1, pp. 69-79, 2003 (PubMed).

Chi, Valencia, Hu et al.: "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." in: Journal of proteome research, Vol. 5, Issue 11, pp. 3135-44, 2006 (PubMed).