Rabbit Anti-MMACHC/FITC Conjugated 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-FITC

Species Reactivity：

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

Immunogen：

KLH conjugated synthetic peptide derived from human MMACHC

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

32kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
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.

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

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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