GPR143 / Unconjugated /
Product Details
| Description | Ocular albinism 1 (Nettleship-Falls; OA1) is an Orphan-U GPCR with an unknown ligand. Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation. Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. Misfolding of the OA1 protein has been suggested as a major pathogenic mechanism in OA1. | |
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| Conjugate | Unconjugated | |
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| Target Species | Gorilla, Human | |
| Applications | IHC-P | |
| Supplier | Aviva Systems Biology | |
| Catalog # | Sign in to view product details, citations, and spectra | |
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About GPR143
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
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