SLC45A2 Antibody

1. Study confirmed a significant role for IRF4 rs12203592 and SLC45A2 rs16891982 in the risk of cutaneous squamous cell carcinoma development in organ transplant recipients. PMID: 27566401
2. our study demonstrates the feasibility of using tandem MS as a means of discovering shared immunogenic tumor-associated epitopes and identifies SLC45A2 as a promising immunotherapeutic target for melanoma with high tumor selectivity and reduced potential for autoimmune toxicity PMID: 28630054
3. Evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. Results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation and reinforce the relevance of SNP L374F in human pigmentation. PMID: 28457509
4. Data indicate AIM1 (absent in melanoma 1) as an actin binding protein and show that it regulates cytoskeletal remodeling and cell migration in prostate epithelial cells. PMID: 28747635
5. Mutation in MATP gene expression is associated with Oculocutaneous albinism type IV. PMID: 27019209
6. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. PMID: 28192564
7. Our analysis revealed 10 sun-exposure-dependent gene expression quantitative trait loci (se-eQTLs), including genes involved in skin pigmentation (SLC45A2) and epidermal differentiation (RASSF9). PMID: 27760139
8. We identitified a single missense substitution in SLC45A2 in 13 families with oculocutaneous albinism. PMID: 25703744
9. The reduction of tyrosinase activity associated with the knockdown of MATP. PMID: 26057890
10. The results indicated that the D93N mutation causes OCA4 as a result of loss of MATP transport activity, and that the F374 allele confers significantly lower transport activity than L374. PMID: 25760657
11. we propose that natural selection in South Europeans is favoring the allele SLC45A2 374F. PMID: 25093503
12. High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. PMID: 24118800
13. Results show that almost all the African populations located below 16 degrees of latitude are fixed for the 374l allele of SLC45A2 gene. PMID: 23660638
14. molecular defects in SLC45A2 gene represent the 3.4% of people with oculocutaneous albinism in this cohort of Italian patients, similar to other Caucasian populations PMID: 24096233
15. We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis. PMID: 23165166
16. We report four Pakistani albinism mutations, including three SLC45A2 alleles and one 22-nucleotide deletion in TYRP1. PMID: 23190901
17. A novel large deletion mutation was detected and identified in oculocutaneous albinism type IV. PMID: 22490798
18. In South European populations, MC1R red hair color and SCL45A2 p.Phe374Leu variants are strong melanoma risk predictors. PMID: 22464347
19. The SLC45A2 gene analysis identified 1 novel mutation, p.D93N. PMID: 22294196
20. Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with oculocutaneous albinism (OCA) PMID: 22042571
21. analysis of a novel SNP associated with melanoma predisposition in the SLC45A2 gene PMID: 21559390
22. analysis of SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia [case report] PMID: 21677667
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. detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c.870delC PMID: 21287499
25. ). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407 in OCA2 and rs16891982 in MATP showed additional association with eye colours PMID: 20457063
26. This study found a diminished perception of sad and fearful information under SSRI which was significant in the long allele group. These findings emphasize the importance of genetic variance in emotion processing research. PMID: 20381161
27. The 374F mutation in the SLC45A2 gene alleles may reflect the ultraviolet radiation level and may thus be associated with skin color variation in these regions. PMID: 19916045
28. a single-nucleotide polymorphism that has clear association with major human populations in terms of skin color. PMID: 11916009
29. Ten novel mutations; one deletion, two frameshift mutations, and seven missense mutations were found in German patients with oculocutaneous albinism type 4. PMID: 14722913
30. The 374Leu allele may contribute to pH changes favoring eumelanin synthesis in melanosomes. The Phe374 allele may alter proton transport and trafficking of melanosomal proteins. PMID: 15714523
31. The p.L374F allele in SLC45A2 is a more specific ancestry informative marker than the p.A111T allele in SLC24A5, as it clearly distinguishes Sri Lankans from Europeans. PMID: 16847698
32. tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population PMID: 17516931
33. The purpose of this study was to investigate the molecular basis of Oculocutaneous albinism among Indians using SLC45A2 as the candidate gene. PMID: 17768386
34. Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1. PMID: 18326704
35. the variant allele c.1122C>G was associated with protection from MM, was consistently linked with dark hair, dark skin, dark eye color, solar lentigins and childhood sunburns, and is a melanoma susceptibility gene in a light-skinned population. PMID: 18563784
36. strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation PMID: 18650849
37. the SLC45A2 variant p.Phe374Leu was significantly and strongly protective for melanoma; MC1R and SLC45A2 variants had additive effects on melanoma risk, and after adjusting for pigmentation characteristics, the risk was persistent PMID: 18683857
38. Variations in the SLC45A2 gene is associated with hair colour variation. PMID: 18806926
39. These novel mutations included one missense substitution D160H and one splice site mutation IVS5+3delAAGT. This is the first Chinese case report of oculocutaneous albinism type 4. PMID: 18986462
40. TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes. PMID: 19060277
41. Single nucleotide polymorphisms in SLC45A2 is associated with melanoma. PMID: 19384953
42. mutation underlies new form of oculocutaneous albinism, OCA4 PMID: 11574907

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HGNC: 16472

OMIM: 227240

KEGG: hsa:51151

STRING: 9606.ENSP00000296589

UniGene: Hs.278962