Anti-MMACHC Antibody (CAB10355)

SKU:
CAB10355
€99 - €249

Description

Technical Manual

Anti-MMACHC Antibody

Product Name:Anti-MMACHC Antibody
Product SKU:CAB10355
Size:20uL, 50 uL
Host Species:Rabbit
Purification Method:Affinity purification
Isotype:IgG
Background:

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.

Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 63-282 of human MMACHC (NP_056321.2).
Sequence:

LKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP

Gene ID:25974
Swiss Prot:Q9Y4U1
Synonyms:MMACHC; cblC
Calculated MW:31kDa
Observed MW:32kDa
Reactivity:Human, Mouse, Rat
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Application Key:Western blotting
Positive Samples:Raji, Jurkat, Mouse kidney, Rat brain
Cellular Location:Cytoplasm

Product Images

Anti-MMACHC Antibody (CAB10355)

Western blot analysis of extracts of various cell lines, using MMACHC antibody (CAB10355) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 20s.

Uniprot Information

UniProt Protein Function:MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Belongs to the MMACHC family.
UniProt Protein Details:

Protein type:Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: cytoplasm; cytosol

Molecular Function:cyanocobalamin reductase (cyanide-eliminating) activity; demethylase activity; glutathione binding; oxidoreductase activity; protein binding; protein homodimerization activity

Biological Process: cobalamin biosynthetic process; cobalamin metabolic process; glutathione metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type

NCBI Summary:The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
UniProt Code:Q9Y4U1
NCBI GenInfo Identifier:85681045
NCBI Gene ID:25974
NCBI Accession:Q9Y4U1.3
UniProt Secondary Accession:Q9Y4U1,Q5T157, Q9BRQ7,
UniProt Related Accession:Q9Y4U1
Molecular Weight:32kDa
NCBI Full Name:Methylmalonic aciduria and homocystinuria type C protein
NCBI Synonym Full Names:methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NCBI Official Symbol:MMACHC
NCBI Official Synonym Symbols:cblC
NCBI Protein Information:methylmalonic aciduria and homocystinuria type C protein
UniProt Protein Name:Methylmalonic aciduria and homocystinuria type C protein
UniProt Synonym Protein Names:CblC
Protein Family:MMACHC-like protein
UniProt Gene Name:MMACHC
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Additional Information

Product type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology
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