Description
Antibody Name: | MMAB Antibody (PACO10519) |
Antibody SKU: | PACO10519 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB, IHC |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse |
Immunogen: | Human MMAB |
Form: | Liquid |
Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity Purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | methylmalonic acid, ria (cobalamin deficiency) cblB type;MMAB;ATR;MGC20496;cblB ; |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis; EC 2.5.1.17; Transferase; 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 |
NCBI Summary: | 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 Code: | Q96EY8 |
NCBI GenInfo Identifier: | 38258221 |
NCBI Gene ID: | 326625 |
NCBI Accession: | Q96EY8.1 |
UniProt Secondary Accession: | Q96EY8,Q9D273, |
UniProt Related Accession: | Q96EY8 |
Molecular Weight: | 27388 |
NCBI Full Name: | Corrinoid adenosyltransferase |
NCBI Synonym Full Names: | metabolism of cobalamin associated B |
NCBI Official Symbol: | MMAB |
NCBI Official Synonym Symbols: | ATR; cob; cblB; CFAP23 |
NCBI Protein Information: | corrinoid adenosyltransferase |
UniProt Protein Name: | Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial |
UniProt Synonym Protein Names: | Cob(I)alamin adenosyltransferase; Methylmalonic aciduria type B protein |
UniProt Gene Name: | MMAB |
UniProt Entry Name: | MMAB_HUMAN |