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methylmalonic aciduria (cobalamin deficiency) cblB type, Polyclonal Antibody

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產(chǎn)品名稱: methylmalonic aciduria (cobalamin deficiency) cblB type, Polyclonal Antibody
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methylmalonic aciduria (cobalamin deficiency) cblB type, Polyclonal Antibody


methylmalonic aciduria (cobalamin deficiency) cblB type, Polyclonal Antibody  的詳細(xì)介紹
Product Name

methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), Polyclonal Antibody

Full Product Name

Rabbit anti-human methylmalonic aciduria (cobalamin deficiency) cblB type polyclonal Antibody

Product Synonym Names
methylmalonic aciduria (cobalamin deficiency) cblB type; MMAB; ATR; MGC20496; cblB
Product Gene Name

anti-MMAB antibody

[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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OMIM
607568
Clonality
Polyclonal
Isotype
IgG
Host
Rabbit
Species Reactivity
Human, Mouse
Purity/Purification
Antigen Affinity Purified
Immunogen
Human MMAB
Storage Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.
Santa Cruz Alternative
Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-69506 / sc-98743
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of anti-MMAB antibody 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.
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Applications Tested/Suitable for anti-MMAB antibody
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
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NCBI/Uniprot data below describe general gene information for MMAB. It may not necessarily be applicable to this product.
NCBI GI #
127802458
NCBI GeneID
326625
NCBI Accession #
AAH05054.2 [Other Products]
UniProt Secondary Accession #
Q9BSH0; C5HU05[Other Products]
UniProt Related Accession #
Q96EY8[Other Products]
Molecular Weight
27,388 Da[Similar Products]
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NCBI Official Full Name
Methylmalonic aciduria (cobalamin deficiency) cblB type
NCBI Official Synonym Full Names
methylmalonic aciduria (cobalamin deficiency) cblB type
NCBI Official Symbol
MMAB??[Similar Products]
NCBI Official Synonym Symbols
ATR; cob; cblB; CFAP23
??[Similar Products]
NCBI Protein Information
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; ATP:corrinoid adenosyltransferase; ATP:cob(I)alamin adenosyltransferase; methylmalonic aciduria type B protein; cilia and flagella associated protein 23; aquocob(I)alamin vitamin B12s adenosyltransferase
UniProt Protein Name
Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
UniProt Synonym Protein Names
Cob(I)alamin adenosyltransferase; Methylmalonic aciduria type B protein
UniProt Gene Name
MMAB??[Similar Products]
UniProt Entry Name
MMAB_HUMAN
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NCBI Summary for MMAB
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
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UniProt Comments for MMAB
MMAB: Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB); also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the Cob(I)alamin adenosyltransferase family.

Protein type: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC 2.5.1.17; Transferase; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12q24

Cellular Component: mitochondrial matrix

Molecular Function: cob(I)yrinic acid a,c-diamide adenosyltransferase activity; ATP binding

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

Disease: Methylmalonic Aciduria, Cblb Type
Research Articles on MMAB
1. A [p.C4X]), were identified in all members of the cblB cohort.">MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort.
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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.
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