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D2HGDH cdna clone

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Catalog # MBS1278912
Unit / Price
  0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
D2HGDH cdna clone
Product Name

D2HGDH, cDNA Clone

Popular Item
Also Known As

D2HGDH cDNA Clone

Product Gene Name
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Length
663
Sequence
atgctgggtg agatcctgtc tgcattcgag ttcatggatg ctgtgtgcat gcagctggtc gggcgccatc tccacctggc cagcccggtg caagagagtc cgttttacgt cctcatcgag acttcaggct ccaacgcagg ccatgacgct gagaagctgg gccacttcct ggagcacgcg ctgggctccg gcctggtgac cgatgggacc atggccaccg accagaggaa agtcaagatg ctgtgggccc tgagggaaag gatcacagag gcgctgagcc gggatggcta cgtgtacaag tacgacctct ccctccctgt ggagcggctc tacgacatcg tgactgacct gcgcgcccgc ctcggcccgc acgccaagca cgtggtgggc tatggccacc ttggagatgg taacctgcac ctcaatgtga cggcggaggc cttcagcccc tcgctcctgg ctgccctgga gccccacgtg tacgagtgga cggccgggca gcagggcagc gtcagcgcgg agcacggagt gggcttcagg aagagggacg tcctgggcta cagcaagcca ccgggggccc tgcagctcat gcagcagctc aaggccctgc tggaccccaa gggcatcctc aacccctaca agacgctgcc cagccaggcc tga
OMIM
600721
Vector
pENTR223.1
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 9001:2008 Certified Laboratory.
Other Notes
Small volumes of D2HGDH cdna clone 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 D2HGDH. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
34,173 Da
NCBI Official Full Name
Homo sapiens D-2-hydroxyglutarate dehydrogenase, mRNA
NCBI Official Synonym Full Names
D-2-hydroxyglutarate dehydrogenase
NCBI Official Symbol
D2HGDH  [Similar Products]
NCBI Official Synonym Symbols
D2HGD
  [Similar Products]
NCBI Protein Information
D-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Protein Name
D-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Gene Name
D2HGDH  [Similar Products]
UniProt Synonym Gene Names
D2HGD  [Similar Products]
UniProt Entry Name
D2HDH_HUMAN
NCBI Summary for D2HGDH
This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
UniProt Comments for D2HGDH
D2HGDH: an oxidoreductase that act on the CH-OH group of donor with other acceptors. Catalyzes the oxidation of D-2-hydroxyglutarate (2HG) to alpha-ketoglutarate. Belongs to the FAD-binding oxidoreductase/transferase type 4 family. 2 human isoforms produced by alternative splicing. Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria (D2HGA), a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.

Protein type: Mitochondrial; Oxidoreductase; EC 1.1.99.-

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: (R)-2-hydroxyglutarate dehydrogenase activity

Biological Process: 2-oxoglutarate metabolic process; cellular protein metabolic process; response to calcium ion; response to cobalt ion; response to magnesium ion; response to manganese ion; response to zinc ion

Disease: D-2-hydroxyglutaric Aciduria 1
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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