Rabbit Anti-MMACHC antibody

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1810037K07Rik; BOS_3654; cblC; DKFZp564I122; FLJ25671; Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria; Methylmalonic aciduria and homocystinuria type C protein; Methylmalonic aciduria and homocystinuria type C protein h

Cat:

SL18960R

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human MMACHC:151-250/282

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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The exact function of the protein encoded by this gene is not known, however, its SLCterminal 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]

Function:
May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).

Tissue Specificity:
Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes.

DISEASE:
Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400].
MMACHC is 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.

Similarity:
Belongs to the MMACHC family.

SWISS:
Q9Y4U1

Gene ID:
25974

Database links:

Entrez Gene: 513433 Cow

Entrez Gene: 25974 Human

Entrez Gene: 67096 Mouse

Entrez Gene: 313520 Rat

Omim: 609831 Human

SwissProt: Q5E9C8 Cow

SwissProt: Q9Y4U1 Human

SwissProt: Q9CZD0 Mouse

Unigene: 13024 Human

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