GPR143 Antibody

1. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in members of families with X-linked ocular albinism. PMID: 28211458
2. The findings of this study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population. PMID: 28339057
3. A c.758T>A mutation in exon 6 of the GPR143 gene is associated with X-linked ocular albinism. PMID: 28397224
4. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN. PMID: 27958203
5. The identification of tyrosinase as a potential GPR143 binding protein opens new avenues for investigating the mechanisms that regulate pigmentation and neurogenesis. PMID: 27720922
6. X-linked ocular albinism type I, characterized by developmental eye defects, results from GPR143 mutations. PMID: 28632878
7. This family was found to harbor a novel, likely pathogenic mutation in GPR143, resulting in a combined Stargardt disease and heterozygous carrier phenotype in the affected sisters. PMID: 27367509
8. Here, we report a Chinese trio-family with the son who was affected by X-linked ocular albinism in which a novel missense mutation in the GPR143 was observed. PMID: 26547501
9. 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 and GPR143 genes in participants. PMID: 27036142
10. Downstream signaling from GPR143 controls RPE secretion of pigment epithelium-derived factor (PEDF), a potent neurotrophic and antiangiogenic factor. PMID: 26741053
11. Five mutations in the 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. PMID: 26160353
12. An intronic mutation that creates a cryptic splice-donor site in GPR143 of patients with ocular albinism. PMID: 26061757
13. The GPR143 gene analysis identified an identical point mutation in two Ocular albinism 1 patients and their mothers. PMID: 24526317
14. Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression. PMID: 24650003
15. OA1 is involved in melanoma cell migration, and OA1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway. PMID: 24736838
16. A novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree. PMID: 24301936
17. Data report that the p.Y269X mutation of the GPR143 gene is responsible for the pathogenesis of familial ocular albinism. PMID: 22916221
18. Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods. PMID: 22486324
19. These results identify the Oa1 transducer Galphai3 as the first downstream component in the Oa1 signaling pathway. PMID: 21931697
20. The ocular albinism type 1 (OA1) GPCR is ubiquitinated, and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. PMID: 21730137
21. TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. However, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R. PMID: 21541274
22. A novel causative mutation of GPR143 was identified in a five-generation Chinese family with X-linked ocular albinism. PMID: 21423867
23. TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation. PMID: 20861488
24. This is the first report of a Japanese X-linked ocular albinism (XLOA) patient with a GPR143 mutation. PMID: 21348135
25. L-DOPA activates GPR143 signaling through a Gq pathway, while dopamine inhibits the receptor. PMID: 18828673
26. We describe the first Spanish family known to present with X-linked ocular albinism due to mutations in the OA1 gene. PMID: 20649618
27. OA1 interacts with MART-1 at early stages of melanogenesis to control melanosome identity and composition. PMID: 19717472
28. Review: mutational analysis in ocular albinism type 1. PMID: 11793467
29. OA1 has been immunologically characterized as an antigen that is expressed, processed, and presented in an MHC-restricted fashion by melanoma cells, but for which there is the human equivalent of a "knockout"--i.e., complete deletion in a male patient. PMID: 12538723
30. Mutations in the OA1 gene are associated with ocular albinism. PMID: 12868035
31. Mutational analysis of the OA1 ocular albinism gene. PMID: 16646960
32. No correlation was identified between congenital nystagmus and ocular albinism 1 (OA1) gene. PMID: 16754205
33. Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family. PMID: 17516023
34. Eight new mutations located in the coding region of the gene are identified. PMID: 17822861
35. Two novel mutations in the OA1 gene were identified in two families with ocular albinism. Identified mutations are likely loss-of-function mutations. Mutations in the OA1 gene are associated with the majority of X-linked ocular albinism cases. PMID: 17960122
36. These results indicate that this novel GPR143 mutation is associated with the congenital nystagmus observed in this Chinese family. PMID: 18523664
37. Panretinal function in OA1 is within normal limits at all ages, consistent with previous reports in generalized albinism. PMID: 18798082
38. Results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor. PMID: 18828673
39. These results expand the mutation spectrum of GPR143 and demonstrate the clinical characteristics of OA1 among the Chinese. PMID: 18978956
40. The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon. PMID: 19123159
41. Results suggest that this novel mutation in GPR143 is associated with the congenital nystagmus observed in this Chinese family. PMID: 19390656
42. Our results confirm that GPR143 is the major locus for X-linked ocular albinism and that exon 2 is a region of high susceptibility to deletions. PMID: 19604113
43. A Chinese family with X-linked ocular albinism and partial deletion of GPR143 is reported. PMID: 19610097

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HGNC: 20145

OMIM: 300500

KEGG: hsa:4935

STRING: 9606.ENSP00000417161

UniGene: Hs.74124