NYS6; OA1

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

Polyclonal

IgG

Rabbit

Affinity Purification

Store at -20 degree C. Avoid freeze/thaw cycles.

Small volumes of anti-GPR143 antibody 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.

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.

Primary antibody

Western Blot (WB)

WB: 1:1000 - 1:2000

Western blot analysis of extracts of various cell lines, using GPR143 antibody at 1:1000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.
Detection: ECL Basic Kit.
Exposure time: 15s.

44kDa

G protein-coupled receptor 143

G-protein coupled receptor 143

G-protein coupled receptor 143

OA1??[Similar Products]

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]

GPR143: Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand- dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. Defects in GPR143 are the cause of albinism ocular type 1 (OA1); also known as Nettleship-Falls type ocular albinism. Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. Defects in GPR143 are the cause of Nystagmus congenital X-linked type 6 (NYS6). It is a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Belongs to the G-protein coupled receptor OA family.

Protein type: GPCR, OA family; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR

Chromosomal Location of Human Ortholog: Xp22.2

Cellular Component: apical plasma membrane; cytoplasm; Golgi apparatus; lysosomal membrane; melanosome; melanosome membrane; membrane; plasma membrane

Molecular Function: dopamine binding; G-protein coupled receptor activity; protein binding

Biological Process: eye pigment biosynthetic process; G-protein coupled receptor protein signaling pathway; melanosome localization; melanosome organization and biogenesis; melanosome transport; phosphoinositide-mediated signaling; regulation of calcium-mediated signaling; signal transduction; visual perception

Disease: Albinism, Ocular, Type I; Nystagmus 6, Congenital, X-linked

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