MUTYH (mutY DNA glycosylase) is a key enzyme of the human DNA repair system. It is expressed in several isoforms, of which two are predominant- type1 mitochondrial and type2 nuclear form. This gene is localized to human chromosome 1p34.1 and spans 11.2kb.
Synonyms: Anti-A/G-specific adenine DNA glycosylase; Anti-MutY homolog; Anti-hMYH
Storage: -20C
Application: All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry. The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: MUTYH (mutY DNA glycosylase) is a part of the DNA glycosylase-initiating base excision repair, where it catalyzes the excision of mispaired adenine with 8-Hydroxyguanine (8OHG) is double-stranded DNA. Biallelic germline inactivating mutations in this gene are responsible for MUTYH-associated polyposis, which results in multiple colorectal polyps and carcinoma. Studies in a Japanese patient show that p.Arg109Trp variant of this gene results in dysfunctional MUTYH enzyme. This results in early-onset colorectal cancer. Inactivation of this gene leads to genetic instability in lymphoblastoid cell lines, which is dependent on the degree of inactivation. Biallelic mutations in this gene are also responsible for Lynch-like syndrome (LLS), which is characterized by tumors containing mismatch repair (MMR) deficiency, without association with germline mutations or somatic methylation of MMR genes.
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