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MMACHC elisa kit :: Human methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria ELISA Kit

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Catalog # MBS9328058
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MMACHC elisa kit
Product Name

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC), ELISA Kit

Full Product Name

Human Methylmalonic aciduria and homocystinuria type C protein, MMACHC ELISA Kit

Product Synonym Names
Human Methylmalonic aciduria and homocystinuria type C protein (MMACHC) ELISA kit; DKFZp564I122; FLJ25671; RP11-291L19.3; cblC; OTTHUMP00000009243; methylmalonic aciduria and homocystinuria type C protein; methylmalonic aciduria (cobalamin deficiency) cblC type; with homocystinuria
Product Gene Name
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Request for Current Manual Insert
OMIM
609831
3D Structure
ModBase 3D Structure for Q9Y4U1
Species Reactivity
Specificity
No significant cross-reactivity or interference between this analyte and analogues is observed.
Assay Type
Sandwich (Quantitative)
Detection Range
3.12ng/ml-100ng/ml.
Sensitivity
1.0ng/ml.
Intra-assay Precision
Intra-assay CV (%) is less than 15%.
Inter-assay Precision
Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].
Preparation and Storage
Store all reagents at 2-8 degree C
Product Note
Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.
Other Notes
Small volumes of MMACHC elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Searchable Terms for MMACHCpurchase
MBS9328058 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing MMACHC. The ELISA analytical biochemical technique of the MBS9328058 kit is based on MMACHC antibody-MMACHC antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect MMACHC antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, MMACHC. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).
Related Product Information for
MMACHC elisa kit
Background: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of MMACHC (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.
Sample Manual Insert of MBS9328058. Click to request current manual
NCBI/Uniprot data below describe general gene information for MMACHC. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
NCBI GenBank Nucleotide #
UniProt Primary Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
31,728 Da
NCBI Official Full Name
methylmalonic aciduria and homocystinuria type C protein
NCBI Official Synonym Full Names
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NCBI Official Symbol
MMACHC  [Similar Products]
NCBI Official Synonym Symbols
NCBI Protein Information
methylmalonic aciduria and homocystinuria type C protein
UniProt Protein Name
Methylmalonic aciduria and homocystinuria type C protein
UniProt Gene Name
MMACHC  [Similar Products]
UniProt Entry Name
MMAC_HUMAN
NCBI Summary for MMACHC
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 Comments for MMACHC
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.

Protein type: Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: mitochondrion; cytosol

Molecular Function: protein binding; cobalamin binding

Biological Process: vitamin metabolic process; cobalamin metabolic process; cobalamin biosynthetic process; water-soluble vitamin metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with MMACHC elisa kit
 Products by Pathway  Pathway Diagram
 Cobalamin (Cbl, Vitamin B12) Transport And Metabolism Pathway antibodies  Cobalamin (Cbl, Vitamin B12) Transport And Metabolism Pathway Diagram
 Defective AMN Causes Hereditary Megaloblastic Anemia 1 Pathway antibodies  Defective AMN Causes Hereditary Megaloblastic Anemia 1 Pathway Diagram
 Defective BTD Causes Biotidinase Deficiency Pathway antibodies  Defective BTD Causes Biotidinase Deficiency Pathway Diagram
 Defective CD320 Causes Methylmalonic Aciduria Pathway antibodies  Defective CD320 Causes Methylmalonic Aciduria Pathway Diagram
 Defective CUBN Causes Hereditary Megaloblastic Anemia 1 Pathway antibodies  Defective CUBN Causes Hereditary Megaloblastic Anemia 1 Pathway Diagram
 Defective GIF Causes Intrinsic Factor Deficiency Pathway antibodies  Defective GIF Causes Intrinsic Factor Deficiency Pathway Diagram
 Defective HLCS Causes Multiple Carboxylase Deficiency Pathway antibodies  Defective HLCS Causes Multiple Carboxylase Deficiency Pathway Diagram
 Defective LMBRD1 Causes Methylmalonic Aciduria And Homocystinuria Type CblF Pathway antibodies  Defective LMBRD1 Causes Methylmalonic Aciduria And Homocystinuria Type CblF Pathway Diagram
 Defective MMAA Causes Methylmalonic Aciduria Type CblA Pathway antibodies  Defective MMAA Causes Methylmalonic Aciduria Type CblA Pathway Diagram
 Defective MMAB Causes Methylmalonic Aciduria Type CblB Pathway antibodies  Defective MMAB Causes Methylmalonic Aciduria Type CblB Pathway Diagram
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