ocular albinism type 1 protein (G protein-coupled receptor 143 or GPR143, OA1) (3d) (Cytoplasmic Domain) antibody

Antigen: ocular albinism type 1 protein (G protein-coupled receptor 143 or GPR143, OA1) (3d)

Binding Site: Cytoplasmic Domain

Clonality: Polyclonal

Host: Rabbit

Application: Immunohistochemistry (IHC), Western Blotting (WB)

Catalog no.: ABIN350532

Additional Information

UniProt: P51810

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.

Format: Lyophilized

Description: 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.

Specificity: Appears to be specific for OA1.

Application Details

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.

Purity: whole serum

Purification: Immunoaffinity chromatography

Storage: Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.

Restrictions: For Research Use only

Publications

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).