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Validated All-in-One™ qPCR Primer for TYR(NM_000372.4) Search again
Product ID:
HQP018343
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
Gene Description:
tyrosinase
Target Gene Accession:
NM_000372.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq].
Gene References into function
- induction of retention in the early secretory pathway by abnormal acidification of melanoma cells
- We report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.
- role of P protein and tyrosinase in oculocutaneous albinism
- Data suggest that maintenance of a chronically hyperpigmented phenotype in chronically photoexposed human skin is the result of a stable increase in the number of tyrosinase positive melanocytes at these sites.
- Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target.
- We show that TYR has measurable effects on skin pigmentation differences between the west African and west European parental populations
- This melanoma-associated marker was detected in melanoma cell lines.
- no mutations in oculocutaneou albinism
- A candidate gene for pigmentation.
- Antigen-specific T lymphocyte reactivity to MelanA/MART-1 and tyrosinase peptides was not observed ex vivo in our patients, and only one patient demonstrated responses to MelanA/MART-1 and tyrosinase peptides following in vitro re-stimulation.
- These results suggest that phosphorylation of tyrosinase by PKC-beta induces a complex formation between tyrosinase and TRP-1.
- results shows that organellar pH, proteasome activity, and down-regulation of tyrosinase-related protein 1(TYRP1) expression all contribute to the lack of pigmentation in tyrosinase-positive amelanotic melanoma cells
- DNA variations - mutations and polymorphisms - in about 150 patients with Oculocutaneous albinism
- IVS2-10deltt-7t-a was present in 3 out of 18 alleles in three families (16%), P310insC was present in three alleles in three families (16%) and R278X was found in three alleles (16%), and G97V (290 G-T) was found in 1 out of 18 alleles
- Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population.
- Data show that oculocutaneous albinism soluble tyrosinase is an endoplasmic reticulum-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78, but not calnexin.
- Endothelin-1 increased tyrosinase levels in melanocytes but suppressed enzyme activity.
- fibroblasts in vitro, particularly when deliberately stressed, have the ability to increase dopa oxidase(tyrosinase) activity in melanocytes of the hair, the skin and the eye
- Sequensce databases contribute to demonstrating novel mutations in tyrosinase of albinism in Indians and Japanese.
- glycan-specific oxidoreductase ERp57 was cross-linked to type I membrane glycoprotein tyrosinase when calnexin and calreticulin were associated
- OCA1 in the Tili population is due to the occurrence of a founder mutation in the TYR as indicated by haplotype analysis. Higher prevalence of the mutation in the population group is due to marriage within the same community.
- the tyrosinase autoantigen was immunorecognized with the same molecular pattern by sera from vitiligo and melanoma patients
- demonstrated that these cells possess tyrosinase as well as L-tyrosine hydroxylase (TH) activity and synthesize melanosomes
- Human Placental protein/peptide fraction mediated increase in tyrosinase expression occurred through transcriptional upregulation to stimulate melanogenesis in primary melanocyte.
- a tyrosinase mutation may have a role in type 1A oculocutaneous albinism (case report)
- TYR is not a modifier of the CYP1B1-associated PCG (primary congenital glaucoma) phenotype in the Saudi Arabian population.
- the transmembrane anchor of a protein may crucially, albeit indirectly, control the folding pathway of the ectodomain, as shown with tyrosinase
- Missense mutations in the tyrosinase gene is asociated with oculocutaneous albinism type 1
- No genetic susceptibility or increased risk attributed to the tyrosinase gene family in Vogt-Koyanagi-Harada disease in Japanese.
- The expression levels of tyrosinase mRNA and protein were also reduced by paeonol.
- tyrosinase has a role in progression of metastatic melanoma
- tyrosinase has a role in progression of melanoma
- tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population
- data show that chloride ion inhibited tyrosinase in a competitive manner
- Anemonin, an active compound of C. crassifolia, inhibits melanin synthesis by inhibiting the transcription of the genes encoding TYR, TRP1, and TRP2.
- analysis of the mammalian tyrosinase active site with loss of function mutations
- Measurement of Melan-A, gp100, MAGE-3, MIA and tyrosinase represents a prognostic factor and a method for early detection of metastasis and treatment response of melanoma patients.
- The absence of evidence for projection abnormalities in human OCA1a carriers contrasts with the previously reported evidence for abnormalities in cat-carriers of tyrosinase-related albinism.
- Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1.
- Tyrosinase-, gp100-, or TRP-2-specific CD8(+) T cells could not be identified in the peripheral blood of individuals with vitiligo.
- alpha-synuclein reacts with tyrosinase and may have a role in Parkinson disease
- Results describe the molecular detection of circulating melanoma cells by reverse transcription-polymerase chain reaction (RT-PCR) in human blood samples and in a xenograft mouse model.
- plays a critical role in regulation of melanogenesis.
- ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
- Four novel mutations of tyrosinase (TYR) gene have been reported in Chinese oculocutaneous albinism patients.
- tyrosinase overexpression promotes an ataxia telangiectasia mutated-dependent p53 phosphorylation by quercetin treatment and sensitizes melanoma cells to dacarbazine.
- Results describe a series of new mutations in the OCA genes, and their role in the molecular diagnosis of oculocutaneous albinism
- Elevated serum tyrosinase is associated with malignant melanoma.
- TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes.