Human methylmalonic aciduria (cobalamin deficiency) cblB type ELISA Kit | MMAB elisa kit
Human Cob (I) yrinic acid a, c-diamide adenosyltransferase, mitochondrial, MMAB ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Uniprot Description
MMAB: Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB); also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the Cob(I)alamin adenosyltransferase family.
Protein type: Transferase; Motility/polarity/chemotaxis; EC 2.5.1.17; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll
Chromosomal Location of Human Ortholog: 12q24
Cellular Component: mitochondrial matrix
Molecular Function: cob(I)yrinic acid a,c-diamide adenosyltransferase activity; ATP binding
Biological Process: vitamin metabolic process; cobalamin biosynthetic process; cobalamin metabolic process; water-soluble vitamin metabolic process
Disease: Methylmalonic Aciduria, Cblb Type
Research Articles on MMAB
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Product Notes
The Human MMAB mmab (Catalog #AAA9333321) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9333321 ELISA Kit recognizes Human MMAB. It is sometimes possible for the material contained within the vial of "methylmalonic aciduria (cobalamin deficiency) cblB type, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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