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  4. Recombinant Human A/G-specific adenine DNA glycosylase (MUTYH)

Recombinant Human A/G-specific adenine DNA glycosylase (MUTYH)

  • 中文名称：
    人MUTYH重组蛋白
  • 货号：
    CSB-YP883426HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人MUTYH重组蛋白
  • 货号：
    CSB-EP883426HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人MUTYH重组蛋白
  • 货号：
    CSB-EP883426HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人MUTYH重组蛋白
  • 货号：
    CSB-BP883426HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人MUTYH重组蛋白
  • 货号：
    CSB-MP883426HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    A/G specific adenine DNA glycosylase; A/G-specific adenine DNA glycosylase; Adenine DNA glycosylase ; CYP2C; hMYH; MGC4416; MutY (E. coli) homolog ; MutY homolog (E. coli); MutY homolog; MutY, E. coli, homolog of; Mutyh; MUTYH_HUMAN; MYH; rMYH
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-546
  • 氨基酸序列
    MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.
  • 基因功能参考文献：
    1. The MUTYH gene presents downregulation in the more advanced stages of colorectal cancer PMID: 29257843
    2. MUTYH variants among Japanese colorectal polyposis patients. PMID: 29330641
    3. Our results suggest that p.(Gly396Asp) in MUTYH, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the OGG1 gene) might be involved in driving the tumorigenesis leading to familial and sporadic small intestinal neuroendocrine tumors . PMID: 28634180
    4. Knockdown of MYH in pancreatic cancer cells reduces tumor growth and sensitizes cells to antineoplastic agents. PMID: 27999205
    5. Rheumatoid arthritis is associated with increased serum level of the MUTYH protein. PMID: 28173856
    6. Inactivating MUTYH germline mutations are associated with high-grade midline gliomas. PMID: 26902849
    7. this review focuses on multifaceted roles of MUTYH in the cell, both in the prevention of mutagenesis and tumorigenesis PMID: 28087410
    8. Acetohexamide exerted this protective function by antagonizing expression of the DNA glycosylase, MUTYH. Together, our data reveal the existence of an NER-independent mechanism to remove UV-induced DNA damage and prevent cell death. PMID: 29149600
    9. Data indicate that DNA glycosylases MYH, UNG2, MPG, NTH1, NEIL1, 2 and 3 on nascent DNA. PMID: 28575236
    10. No biallelic mutation carriers for the MUTYH variants c.536A.G p.Tyr179Cys (Y179C) in exon 7 and c.1187G.A p.Gly396Asp (G396D) in exon 13 was found, after screening with a novel high resolution melt curve (HRM) analysis assay. PMID: 23805267
    11. MUTYH p.Y179C mutation was associated with an increased risk of colorectal cancer among Egyptian patients rather than MUTYH p.G396D mutation. PMID: 27631816
    12. The majority (18/23) of patients with Familial Adenomatous Polyposis and all of the patients with Attenuated Familial Adenomatous Polyposis with an Adrenal Lesion had a genetically proven syndrome.All of the patients with MUTYH-Associated Polyposis had a biallelic germline MUTYH mutation. PMID: 28891849
    13. These results suggested that reduced MUTYH expression is associated with somatic mutation loads via a reduction in DNA repair capacity in prostate adenocarcinoma. PMID: 27253753
    14. s identified 266 probands (91% Caucasians) with a MUTYH mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry. Mutation status, sex, age and histories of cancer from their 1,903 first- and 3,255 second-degree relatives were analyzed using modified segregation analysis conditioned on the ascertainment criteria. PMID: 27194394
    15. A high heterogeneity of MUTYH variants and a high rate of variants of unknown significance were identified in a cohort of Italian patients with suspected MUTYH-associated polyposis. Genotype-phenotype analysis suggests that the p.Glu480del variant is associated with a severe phenotype. PMID: 27829682
    16. Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. PMID: 28127763
    17. report of the results of functional evaluation of nine missense-type MUTYH variant proteins in the Japanese population; findingssuggest that p.N238S and p.R247G are likely to be pathogenic alleles for MUTYH-associated polyposis PMID: 26694661
    18. Case Report: MUTYH-associated polyposis with cutaneous sebaceous lesions. PMID: 27870730
    19. The IVS10-2A>G MUTYH heterozygote variant might add to the risk of developing germline APC mutation negative colorectal adenomatous polyposis in Japanese patients. PMID: 26684191
    20. MutY homolog Y165C and G382D mutations are not associated with cholangiocarinoma. PMID: 26881680
    21. the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation PMID: 26446593
    22. A mutation in both a MUTYH and either a MLH1, MSH2 and PMS2 gene mutation is associated with colorectal cancer. PMID: 26202870
    23. Expression of APC is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced mRNA expression. PMID: 26511139
    24. MUTYH mutations are prevalent among Jews of North-African origin with colorectal adenomas.Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers among among Jews of North-African origin. PMID: 25822476
    25. We demonstrated that the rs3219463 and rs3219476 polymorphisms in RA patients from a Taiwan Chinese population were associated with disease susceptibility. These data indicate that the MUTYH gene may play a role in the progression of RA. PMID: 26273655
    26. 47 MUTYH gene variants (site-directed mutagenesis) were generated, the proteins expressed in MutY-disrupted E. coli, and assessed their abilities to complement the functional deficiency in the E. coli by monitoring spontaneous mutation rates. PMID: 25820570
    27. first study to show that SNPs of genes involved in DNA repair, may modulate the risk of Depressive Disorder. PMID: 26074017
    28. The results of this study suggested that the MUTYH gene polymorphisms may play an important role in the etiology of Alzheimer's Disease. PMID: 25998844
    29. adenine glycosylase activity, mismatch recognition properties and interaction with protein partners of MUTYH and 5 MAP variants were examined; P502L and R520Q had reduced affinity for PCNA; only Q324H was found to have reduced affinity for Hus1 PMID: 26377631
    30. Results showed that AluYb8MUTYH variant was associated with high level of altered mtDNA in type 2 diabetes mellitus patients that may have resulted from inefficient base excision repair of MUTYH and a mechanism trigerred by elevated oxidative stress. PMID: 25829257
    31. As well as MUTYH Tyr/Tyr and XPD Asp/Asn genotypes further increased the risk by 2.9. PMID: 25916209
    32. Individuals with biallelic MUTYH mutations in MUTYH-associated polyposis are under-ascertained based on both genotype and phenotype under current standard testing practices. PMID: 24620956
    33. Data suggest that detection of the c.34G>T KRAS transversion could imply biallelic germline mutY DNA glycosylase MUTYH mutation and lead to genetic counseling. PMID: 26056087
    34. Biallelic MUTYH mutations impair the base excision repair process and can result in somatic mutational inactivation of both DNA mismatch repair alleles mimicking Lynch syndrome by displaying a DNA mismatch repair deficient tumor. PMID: 24518836
    35. These data reveal that human Rad9 interacts directly with N-terminal region of human MYH. PMID: 25127721
    36. Findings indicate that the type of MUTYH mutation can affect the extent of genome instability associated with MUTYH inactivation. PMID: 24569162
    37. Monoallelic MUTYH hotspot mutations (p.G396D and p.Y179C) do not act as major genetic susceptibility factors causing a substantial CCA risk in the Caucasian population. PMID: 24420788
    38. MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. PMID: 23361220
    39. The 3 heterozygosity variants of MYH gene in a Chinese population. PMID: 24377541
    40. An association may exist between MUTYH and AE. PMID: 24377542
    41. A heterozygous p.Arg19 * MUTYH variant and a heterozygous p.Arg109Trp MUTYH variant were detected in one patient each. PMID: 24799981
    42. A proportion of unexplained LLS cases is caused by biallelic MUTYH mutations. PMID: 24953332
    43. We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. PMID: 24470512
    44. It is a component of a base excision repair system that protects the genomic information from oxidative damage. PMID: 23605219
    45. Results show that MYH is a vital DNA repair enzyme that protects cells from oxidative DNA damage and is critical for a proper cellular response to DNA damage. PMID: 24315136
    46. Report shows that the interdomain connector (IDC) of human MYH (hMYH) maintains interactions with hAPE1 and the human checkpoint clamp Rad9-Rad1-Hus1 (9-1-1) complex. PMID: 24209961
    47. this study shows that MutYH is ubiquitinated in vitro and in vivo by the E3 ligase Mule between amino acids 475 and 535. PMID: 24443563
    48. The rs3219489 SNP in the MUTYH gene was marginally significant in association with colorectal cancer susceptibility. [Meta-analysis] PMID: 24039736
    49. Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population. PMID: 24444654
    50. the roles of the AluYb8MUTYH variant in impairing the mitochondrial base excision repair (mtBER) system PMID: 23936466

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  • 相关疾病：
    Familial adenomatous polyposis 2 (FAP2); Gastric cancer (GASC)
  • 亚细胞定位：
    Nucleus. Mitochondrion.
  • 蛋白家族：
    Nth/MutY family
  • 数据库链接：

    HGNC: 7527

    OMIM: 604933

    KEGG: hsa:4595

    STRING: 9606.ENSP00000361170

    UniGene: Hs.271353