TYR Antibody

1. Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein. PMID: 29870551
2. The effect of histidine mutations on the structural stability of human tyrosinase leading to albinism has been reported. PMID: 28640309
3. Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of oculocutaneous albinism PMID: 27829221
4. Mutations in tyrosinase gene is associated with Oculocutaneous albinism type 1. PMID: 27775880
5. tyrosinase as a potential GPR143 binding protein opens new avenues for investigating the mechanisms that regulate pigmentation and neurogenesis. PMID: 27720922
6. Aberrant tyrosinase expression in an atypical fibroxanthoma PMID: 28097678
7. Findings suggested that miR-330-5p represents a potential tumor-suppressive miRNA and plays an important role in cutaneous malignant melanoma progression by suppressing TYR and PDIA3 expression. PMID: 27363653
8. Four missense substitutions (p.Arg239Trp, p.Ser192Tyr, p.Ser44Arg and p.Arg77Gln) were identified in tyrosinase in the families with oculocutaneous albinism linkage, and another missense substitution (p.Gln272Lys) was identified in the family with OCA4 linkage PMID: 25703744
9. LEF-1 and MITF regulate tyrosinase gene transcription in vitro via binding to its promoter. PMID: 26580798
10. Data show that mutant microphthalmia-associated transcription factor (MITF) with loss of localization signals (NLS) has failed to transactivate the transcriptional activities of target gene tyrosinase (TYR), which can cause Waardenburg syndrome. PMID: 26663053
11. The tyrosinase gene was examined in 23 unrelated patients with autosomal recessive ocular albinism or nonsyndromic oculocutaneous albinism. TYR gene mutations were identi fi ed in 14 (app. 60%) albinism patients. PMID: 26167114
12. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of Oculocutaneous albinism. PMID: 25919014
13. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. PMID: 25687215
14. Overall, our data strongly suggest that IRF4, MC1R and TYR genes likely have pleiotropic effects, a combination of pigmentation and oncogenic functions, resulting in an increased risk of actinic keratosis. PMID: 25724930
15. Data indicate that tyrosinase is used as a reporter gene owing to its strong optical absorption and enzymatic amplification mechanism and melamin production. PMID: 24936769
16. Identification of four novel TYR mutations in a Chinese Han population with Oculocutaneous albinism 1. PMID: 25577957
17. 11/11 individuals with homozygous or compound heterozygous mutations in TYR, have no discernible pigmentation in hair, skin and eyes PMID: 25455140
18. human tyrosinase, which can oxidize l-tyrosine but not d-tyrosine, was found to oxidize both R(-)- and S(+)-rhododendrol. PMID: 25130058
19. Among the 24 (58.5%) patients with OCA1, 21 different TYR mutations were identified, including three previously unidentified alleles PMID: 24721949
20. Two new pathogenic p.C89S and p.H180R mutations in TYR were detected in two OCA1 patients. PMID: 25216246
21. A meaningful met form of TYR was built by homology modeling. PMID: 24612747
22. miR-330-5p is a potent negative regulator of TYR, but not of MITF, in pigmented melanoma cells and normal melanocytes PMID: 24862846
23. Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits. PMID: 24739399
24. We report a novel missense substitution in the TYR gene(p.Ile198Thr) in a Pakistani family with oculocutaneous albinism. PMID: 24934919
25. cAMP-PKA-CREB-activated microphthalmia-associated transcription factor and tyrosinase expression is inhibited by the novel novel adamantyl benzylbenzamide derivative, AP736 PMID: 24107097
26. 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
27. Treatment with an inhibitor of miR-203 downregulated the expression level of TYR in melanoma cells. PMID: 23884313
28. 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
29. A G47D & 1379delTT mutation was seen in 4 members of an oculocutaneous albinism family. An unrelated patient was a compound heterozygote for the G47D & D42N mutations. PMID: 23242301
30. The results suggested that the miRNAs may be involved in MITF regulation of TYR, TYRP1 and TYRP2, which provides a new clue for understanding the role of miRNAs in melanocyte dysfunctional disease. PMID: 22898827
31. W400L is the most frequent mutation in oculocutaneous albinism type 1, which accounted for about 30.0% of Chinese mainland patients. PMID: 22097729
32. Analysis showed that certain mutations can affect the dynamic properties of tyrosinase and can lead to disease conditions, providing a significant insight into the molecular mechanism of oculocutaneous albinism type 1A. PMID: 23085273
33. DGK regulates melanogenesis via modulation of the posttranslational processing of tyrosinase, which may be related with the protein degradation machinery. PMID: 22895365
34. Report association between TYR genetic variants and melanoma susceptibilty in southern European patients. PMID: 22464347
35. By using a population-based material of high-risk melanoma cases, we demonstrate a significant effect of both MC1R red hair color (RHC) variants and an ASIP haplotype, but could not replicate an association with postulated risk SNPs of TYR and TYRP1. PMID: 22447455
36. The HLA-A-TYR pathways is involved in antigen presentation and risk in generalized vitiligo. PMID: 22402439
37. study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with oculocutaneous albinism type PMID: 22088535
38. Melanoma cells present high levels of HLA-A2-tyrosinase in association with instability and aberrant intracellular processing of tyrosinase. PMID: 22531911
39. these findings emphasize the role of OTX2 in regulating the human TYR gene, with implications for inter-individual differences in melanin synthesis, retinal development, and function as well as susceptibility to retinal degeneration associated with aging. PMID: 22259223
40. TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H. PMID: 22294196
41. 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
42. association of TYR p.R402Q with skin cancer risk in the French population. PMID: 21906913
43. TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R. PMID: 21541274
44. Data show that Mc1R, HERC2, IRF4, TYR and EXOC2 are ranked highest in hair color prediction analysis. PMID: 21197618
45. 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
46. results suggest that an OCA2 gene defect is the second most prevalent type of oculocutaneous albinism in India after TYR & the presence of homozygous mutations in affected pedigrees underscores the lack of intermixing between the affected ethnicities PMID: 20426782
47. in India, the frequency of OCA1 subtypes is about 61% PMID: 20861851
48. We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese. PMID: 20447099
49. observed associations between generalized vitiligo and markers implicating multiple genes, one (TYR) that may mediate target-cell specificity and indicate a mutually exclusive relationship between susceptibility to vitiligo and susceptibility to melanoma PMID: 20410501
50. T cell receptor transgenic mice are created that recognize an epitope of the melanocyte protein, tyrosinase. These animals develop vitiligo with strikingly similar characteristics to the human disease. PMID: 20083666

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HGNC: 12442

OMIM: 103470

KEGG: hsa:7299

STRING: 9606.ENSP00000263321

UniGene: Hs.503555