MMADHC Antibody, Biotin conjugated

Code CSB-PA875665LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) MMADHC Polyclonal antibody
Uniprot No.
Target Names
MMADHC
Alternative Names
C2orf25 antibody; cblD antibody; Chromosome 2 open reading frame 25 antibody; CL25022 antibody; Methylmalonic aciduria (cobalamin deficiency) cblD type; with homocystinuria antibody; Methylmalonic aciduria and homocystinuria type D protein antibody; methylmalonic aciduria and homocystinuria type D protein; mitochondrial antibody; mitochondrial antibody; MMAD_HUMAN antibody; Mmadhc antibody; Protein C2orf25; mitochondrial antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial protein (26-142AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Involved in cobalamin metabolism and trafficking. Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl). Promotes oxidation of cob(II)alamin bound to MMACHC. The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine.
Gene References into Functions
  1. analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway PMID: 26364851
  2. specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis PMID: 24722857
  3. MMADHC mutations are associated with methylmalonic aciduria and homocystinuria. PMID: 22156578
  4. mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder PMID: 18385497
Involvement in disease
Methylmalonic aciduria and homocystinuria type cblD (MMAHCD)
Subcellular Location
Cytoplasm. Mitochondrion.
Tissue Specificity
Widely expressed at high levels.
Database Links

HGNC: 25221

OMIM: 277410

KEGG: hsa:27249

STRING: 9606.ENSP00000301920

UniGene: Hs.5324

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