MMACHC Recombinant Protein

Name: MMACHC Recombinant Protein; Research Grade; MyBioSource
Brand: MyBioSource
SKU: MBS204778
Price: 230 USD
Availability: InStock
Rating: 5 (10 reviews)

For Research Use Only. Not for use in diagnostic procedures. Catalog #: MBS204778

The exact function of MMACHC 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… More details

$230 / 0.02 mg +1 FREE 8GB USB

Product Documentation

Sample Manual Insert View PDF

Testing Data View PDF

Certificate of Analysis (COA) View PDF

QC Report View PDF

Material Safety Data Sheet View PDF

Technical Datasheet View PDF

Protocol View PDF

Product Overview

Online Datasheet in PDF

Product Name

MMACHC, Recombinant Protein

Full Product Name

MMACHC, 1-282aa, Human, His tag, E Coli

Product Gene Name

MMACHC recombinant protein

Product Synonym Names

Methylmalonic aciduria and homocystinuria type C protein; RP11-291L19.3; cblC

Sequence

MGSSHHHHHH SSGLVPRGSH MGSHMEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTP AMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGA AYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGF NFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRA RSWLSPRVSP PASPGP

Host

E Coli

Form/Format

Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT

Purity/Purification

> 90% by SDS-PAGE

Concentration

0.5 mg/ml (determined by Bradford assay) (lot specific)

Preparation and Storage

Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.

Molecular Weight

34 kDa (306aa), confirmed by MALDI-TOF

OMIM

AL080062 mRNA

3D Structure

ModBase 3D Structure for Q9Y4U1

Antigen Species

Human

Tag Information

His-tag

Product Categories/Family for MMACHC recombinant protein

Signal Transduction

Applications Tested/Suitable for MMACHC recombinant protein

SDS-PAGE

Product References and Citations for MMACHC recombinant protein

Lerner-Ellis JP.,et al. (2006) Nat Genet. 38 (1):93-100.; Tsai AC.,et al. (2007) Am. J. Med. Genet. A 143A (20): 2430-4.

Other Notes

Small volumes of MMACHC recombinant protein 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 MMACHC purchase

MBS204778 is a recombinant protein targeting MMACHC. Also known as MMACHC, 1-282aa, Human, His tag, E Coli. Host: E Coli.

Additional Details

NCBI/Uniprot data below describe general gene information for MMACHC. It may not necessarily be applicable to this product.

NCBI GI #

153070822

NCBI GeneID

25974

NCBI Accession #

NP_056321

UniProt Primary Accession #

Q9Y4U1

UniProt Secondary Accession #

Q5T157; Q9BRQ7

UniProt Related Accession #

Q9Y4U1

GenBank Nucleotide #

NM_015506.2

NCBI Official Full Name

methylmalonic aciduria and homocystinuria type C protein isoform 1

NCBI Official Synonym Full Names

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

NCBI Official Symbol

MMACHC

NCBI Official Synonym Symbols

cblC

UniProt Protein Name

Methylmalonic aciduria and homocystinuria type C protein

UniProt Synonym Protein Names

CblC

Protein Family

Methylmalonic aciduria and homocystinuria type C protein

UniProt Gene Name

MMACHC

NCBI Protein Information

methylmalonic aciduria and homocystinuria type C protein

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

Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).

Research Articles on MMACHC

1. Partial CblC-type inherited Methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A) can onset with severe metabolic Atypical hemolytic uremic syndrome.

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.

Product Note

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. 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, it is intended to serve as an example only. Please refer to the instructions For Use provided with the assay kit for precise details.

Product PubMed Publications

Products associated with MMACHC recombinant protein

Reference Product	PubMed Publications
MMADHC recombinant protein	>10 publications with MMACHC and MMADHC
MUT recombinant protein	>9 publications with MMACHC and MUT
MMAA recombinant protein	>7 publications with MMACHC and MMAA
MMAB recombinant protein	>5 publications with MMACHC and MMAB
LMBRD1 recombinant protein	>4 publications with MMACHC and LMBRD1
MTR recombinant protein	>4 publications with MMACHC and MTR
MTRR recombinant protein	>3 publications with MMACHC and MTRR

Pathways associated with MMACHC recombinant protein

Products by Pathway	Pathway Diagram
Cobalamin (Cbl, Vitamin B12) Transport And Metabolism Pathway antibodies	Cobalamin (Cbl, Vitamin B12) Transport And Metabolism Pathway Diagram
Defective MMACHC Causes Methylmalonic Aciduria And Homocystinuria Type CblC Pathway antibodies	Defective MMACHC Causes Methylmalonic Aciduria And Homocystinuria Type CblC Pathway Diagram
Defective MMADHC Causes Methylmalonic Aciduria And Homocystinuria Type CblD Pathway antibodies	Defective MMADHC Causes Methylmalonic Aciduria And Homocystinuria Type CblD Pathway Diagram
Defects In Cobalamin (B12) Metabolism Pathway antibodies	Defects In Cobalamin (B12) Metabolism Pathway Diagram
Defects In Vitamin And Cofactor Metabolism Pathway antibodies	Defects In Vitamin And Cofactor Metabolism Pathway Diagram
Disease Pathway antibodies	Disease Pathway Diagram
Diseases Of Metabolism Pathway antibodies	Diseases Of Metabolism Pathway Diagram
Metabolism Pathway antibodies	Metabolism Pathway Diagram
Metabolism Of Vitamins And Cofactors Pathway antibodies	Metabolism Of Vitamins And Cofactors Pathway Diagram
Metabolism Of Water-soluble Vitamins And Cofactors Pathway antibodies	Metabolism Of Water-soluble Vitamins And Cofactors Pathway Diagram

Diseases associated with MMACHC recombinant protein

Disease Name	Pubmed Publications
Brain Diseases Antibodies	>51 publications with MMACHC and Brain Diseases
Methylmalonic acidemia with homocystinuria Antibodies	>25 publications with MMACHC and Methylmalonic acidemia with homocystinuria
Kidney Diseases Antibodies	>11 publications with MMACHC and Kidney Diseases
Atrophy Antibodies	>10 publications with MMACHC and Atrophy
Hypertension Antibodies	>7 publications with MMACHC and Hypertension
Heart Defects, Congenital Antibodies	>6 publications with MMACHC and Heart Defects, Congenital
Nerve Degeneration Antibodies	>5 publications with MMACHC and Nerve Degeneration
Heart Diseases Antibodies	>5 publications with MMACHC and Heart Diseases
Abnormalities, Multiple Antibodies	>4 publications with MMACHC and Abnormalities, Multiple
Hemolysis Antibodies	>2 publications with MMACHC and Hemolysis

Organs/Tissues associated with MMACHC recombinant protein

Organ/Tissue Name	Pubmed Publications
Brain Antibodies	>17 publications with MMACHC and Brain
Eye Antibodies	>9 publications with MMACHC and Eye
Kidney Antibodies	>8 publications with MMACHC and Kidney
Bone Antibodies	>3 publications with MMACHC and Bone
Skin Antibodies	>2 publications with MMACHC and Skin
Liver Antibodies	>2 publications with MMACHC and Liver
Lung Antibodies	>2 publications with MMACHC and Lung
Lymph Antibodies	>1 publications with MMACHC and Lymph