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GPR143 encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells.
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The findings of the present study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population.
c.758T>A mutation in exon 6 of the GPR143 gene is associated with X-linked ocular albinism.
Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.
tyrosinase (show TYR Antibodies) as a potential GPR143 binding protein opens new avenues for investigating the mechanisms that regulate pigmentation and neurogenesis.
X-linked ocular albinism type I, characterized by developmental eye defects, results from GPR143 mutations
This family was found to harbor a novel, likely pathogenic mutation in GPR143 resulting in a combined Stargart disease and heterozygous carrier phenotype in the affected sisters .
Here, we report a Chinese trio (show TRIO Antibodies)-family with the son who was affected by the X-linked ocular albinism in which a novel missense mutation in the GPR143 was observed.
Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 (show FRMD7 Antibodies) and GPR143 genes in participants.
Downstream signaling from GPR143 controls RPE (show RPE Antibodies) secretion of pigment epithelium-derived factor (PEDF (show SERPINF1 Antibodies)), a potent neurotrophic and antiangiogenic factor.
Five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A,two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC.
OA1 expression in both neuronal and non-neuronal tissues was examined by immunohistochemical analyses, results suggested that OA1 may modulate the monoaminergic functions in both peripheral and central nervous systems
Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL (show PMEL Antibodies) expression.
These results identify the Oa1 transducer Galphai3 (show GNAI3 Antibodies) as the first downstream component in the Oa1 signaling pathway.
OA1 interacts with MART-1 (show RTL1 Antibodies) at early stages of melanogenesis to control melanosome identity and composition.
Asparagine at amino acid 106 is essential for N-glycosylation of the Oa1 protein. Mutation at amino acid 106 that eliminated glycosylation did not affect the endo/lysosomal distribution of Oa1 protein in cells.
the ocular albinism type 1 gene expression is controlled by microphthalmia transcription factor (Mitf (show MITF Antibodies))
The findings indicate that Oa1 is involved in the regulation of melanosome maturation at two steps, Oa1 controls the abundance of melanosomes in RPE (show RPE Antibodies) cells and has a function in the maintenance of a correct melanosomal size.
G alpha i3, like Oa1, plays important role in melanosome biogenesis. Common Oa1-G alpha i3 signaling pathway may ultimately affect axonal growth through optic chiasm.
data point to defective regulation of organelle transport in pigment cells in absence of OA1; results enlighten novel function for OA1 in pigment cells & suggest ocular albinism type 1 may result from a different mechanism than previously thought
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.
G-protein coupled receptor 143
, ocular albinism type 1 protein
, homolog of human ocular albinism 1 (Nettleship-Falls)
, ocular albinism type 1 protein homolog