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Methylmalonic Aciduria Type D Protein (MMAD)

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MMADHC; cblD; C2orf25; Cobalamin Deficiency cblD Type,With Homocystinuria

Methylmalonic Aciduria Type D Protein (MMAD)
CCC L117
HGNC 25221
MGI 1923786
PubMed 18385497
RGD 1303272
UniProt Q9H3L0
Wiki MMADHC
Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to adenosylcobalamin in mitochondria and to methylcobalamin in cytoplasm is necessary for homeostasis of methylmalonic acid and homocysteine. C2ORF25 encodes a protein involved in an early step of cobalamin metabolism.
By RT-PCR of fibroblast mRNA, Coelho et al. (2008) obtained a full-length cDNA for C2ORF25. MMAD has a calculated molecular mass of 32.8 kD. It has an N-terminal mitochondrial leader sequence and a putative vitamin B12-binding motif, NxHxxG, at residues 81 through 86. EST database analysis suggested that C2ORF25 is highly expressed in most tissues.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylmalonic Aciduria Type D Protein (MMAD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylmalonic Aciduria Type D Protein (MMAD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylmalonic Aciduria Type D Protein (MMAD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylmalonic Aciduria Type D Protein (MMAD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylmalonic Aciduria Type D Protein (MMAD) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylmalonic Aciduria Type D Protein (MMAD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylmalonic Aciduria Type D Protein (MMAD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylmalonic Aciduria Type D Protein (MMAD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylmalonic Aciduria Type D Protein (MMAD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylmalonic Aciduria Type D Protein (MMAD) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylmalonic Aciduria Type D Protein (MMAD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylmalonic Aciduria Type D Protein (MMAD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylmalonic Aciduria Type D Protein (MMAD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylmalonic Aciduria Type D Protein (MMAD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylmalonic Aciduria Type D Protein (MMAD) ELISA Kit Customized Service Offer
  1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Gene identification for the cblD defect of vitamin B12 metabolism."N. Engl. J. Med. 358:1454-1464(2008) [PubMed] [Europe PMC] [Abstract]
  6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  7. "Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism."Mol. Genet. Metab. 108:112-118(2013) [PubMed] [Europe PMC] [Abstract]