G Protein-Coupled Receptor 143 (GPR143) (4th Cytoplasmic Domain) antibody

Details for Product No. ABIN350534
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Synonyms NYS6, OA1, Oa1, RGD1565799
4th Cytoplasmic Domain
(6), (5), (2), (1), (1), (1), (1), (1), (1)
(38), (24), (14)
(38), (3)
(1), (1), (1), (1), (1), (1), (1), (1), (1), (1), (1)
Immunohistochemistry (IHC), Western Blotting (WB)
(16), (16), (11), (10), (6), (6), (3), (2), (2)
Pubmed 8 references available
Quantity 500 μg
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Catalog No. ABIN350534
454.67 $
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Immunogen A synthetic peptide from the 4th cytoplasmic domain of human OA1 conjugated to blue carrier protein was used as the antigen.
Isotype IgG
Specificity Specific for OA1.
Alternative Name OA1
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.
Application Notes A concentration of 10-50 µg/ml is recommended.
The optimal concentration should be determined by the end user.
Not yet tested in other applications.
Restrictions For Research Use only
Format Lyophilized
Reconstitution Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Handling Advice Avoid freeze and thaw cycles.
Storage 4 °C/-20 °C
Storage Comment 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.
Expiry Date 12 months
General 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).

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).

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).

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).

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).

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).

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).

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).

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