Methylmalonic aciduria cblB type (MMAB) gene, spanning 19.8kb length with 9 exons, is mapped to human chromosome 12q24.11. The gene codes for a 27.4kDa ATP cob (I) alamin adenosyltransferase (ATR) protein composed of 250 amino acids. The protein belongs to the family of PduO family of cobalamin adenosyltransferase.
Synonyms: Anti-CFAP23; Anti-cblB
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: ATP cob (I) alamin adenosyltransferase (ATR) /methylmalonic aciduria cblB type (MMAB) is a novel mitochondrial enzyme involved in the vitamin B12 metabolism. It catalyzes the conversion of reduced cob (I) alamin to the adenosylcobalamin cofactor. Genetic variation of the gene is associated with the cblB type methylmalonic aciduria. In addition, polymorphism in MMAB gene is associated with the increased plasma high-density lipoprotein cholesterol (HDL-C) levels and decreased risk of coronary heart disease (CHD) in Chinese population.
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