Anti-MMACHC 항체 (CAB10355)

Antibody Name:	Anti-MMACHC Antibody
Antibody SKU:	CAB10355
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 63-282 of human MMACHC (NP_056321.2).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse, Rat
Positive Samples:	Raji, Jurkat, Mouse kidney, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 63-282 of human MMACHC (NP_056321.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	LKPF LQSC HLRM LTDP VDQC VAYH LGRV RESL PELQ IEII ADYE VHPN RRPK ILAQ TAAH VAGA AYYY QRQD VEAD PWGN QRIS GVCI HPRF GGWF AIRG VVLL PGIE VPDL PPRK PHDC VPTR ADRI ALLE GFNF HWRD WTYR DAVT PQER YSEE QKAY FSTP PAQR LALL GLAQ PSEK PSSP SPDL PFTT PAPK KPGN PSRA RSWL SPRV SPPA SPGP
Gene ID:	25974
Uniprot:	Q9Y4U1
Cellular Location:	Cytoplasm
Calculated MW:	31kDa
Observed MW:	32kDa

Synonyms:

MMACHC, cblC

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.

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

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.

Antibodies

MMACHC Antibody (PACO10520)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)