Product Name
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (BCKDHA), Recombinant Protein
Full Product Name
Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (BCKDHA)
Product Gene Name
BCKDHA recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Positions
46-445aa, Full Length of Mature Protein
Sequence
SSLDDKPQFP GASAEFIDKL EFIQPNVISG IPIYRVMDRQ GQIINPSEDP HLPKEKVLKL YKSMTLLNTM DRILYESQRQ GRISFYMTNY GEEGTHVGSA AALDNTDLVF GQYREAGVLM YRDYPLELFM AQCYGNISDL GKGRQMPVHY GCKERHFVTI SSPLATQIPQ AVGAAYAAKR ANANRVVICY FGEGAASEGD AHAGFNFAAT LECPIIFFCR NNGYAISTPT SEQYRGDGIA ARGPGYGIMS IRVDGNDVFA VYNATKEARR RAVAENQPFL IEAMTYRIGH HSTSDDSSAY RSVDEVNYWD KQDHPISRLR HYLLSQGWWD EEQEKAWRKQ SRRKVMEAFE QAERKPKPNP NLLFSDVYQE MPAQLRKQQE SLARHLQTYG EHYPLDHFDK
3D Structure
ModBase 3D Structure for P12694
Host
E Coli or Yeast or Baculovirus or Mammalian Cell
Purity/Purification
>85% (SDS-PAGE) (lot specific)
Form/Format
Liquid containing glycerol
Tag Information
This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.
Sterility
Sterile filter available upon request.
Endotoxin
Low endotoxin available upon request.
Storage Buffer
Tris-based buffer, 50% glycerol
Preparation and Storage
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of BCKDHA 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.
NCBI/Uniprot data below describe general gene information for BCKDHA. It may not necessarily be applicable to this product.
NCBI Accession #
NP_000700.1
[Other Products]
NCBI GenBank Nucleotide #
NM_000709.3
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UniProt Primary Accession #
P12694
[Other Products]
UniProt Secondary Accession #
Q16034; Q16472; B4DP47; E7EW46[Other Products]
UniProt Related Accession #
P12694[Other Products]
Molecular Weight
50,790 Da
NCBI Official Full Name
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1
NCBI Official Synonym Full Names
branched chain keto acid dehydrogenase E1, alpha polypeptide
NCBI Official Symbol
BCKDHA??[Similar Products]
NCBI Official Synonym Symbols
MSU; MSUD1; OVD1A; BCKDE1A
??[Similar Products]
NCBI Protein Information
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
UniProt Protein Name
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
UniProt Synonym Protein Names
Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; BCKDE1A; BCKDH E1-alpha
UniProt Gene Name
BCKDHA??[Similar Products]
UniProt Synonym Gene Names
BCKDE1A; BCKDH E1-alpha??[Similar Products]
NCBI Summary for BCKDHA
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
UniProt Comments for BCKDHA
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO2. It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
Research Articles on BCKDHA
1. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
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.
