Recombinant Human D2HGDH Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: D2HGDH-627H
• Product Overview: D2HGDH MS Standard C13 and N15-labeled recombinant protein (NP_689996) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc&DDK
• Molecular Mass: 56.4 kDa
• AA Sequence: MLPRRPLAWPAWLLRGAPGAAGSWG RPVGPLARRGCCSAPGTPEVPLTRE RYPVQRLPFSTVSKQDLAAFERIVP GGVVTDPEALQAPNVDWLRTLRGCS KVLLRPRTSEEVSHILRHCHERNLA VNPQGGNTGMVGGSVPVFDEIILST ARMNRVLSFHSVSGILVCQAGCVLE ELSRYVEERDFIMPLDLGAKGSCHI GGNVATNAGGLRFLRYGSLHGTVLG LEVVLADGTVLDCLTSLRKDNTGYD LKQLFIGSEGTLGIITTVSILCPPK PRAVNVAFLGCPGFAEVLQTFSTCK GMLGEILSAFEFMDAVCMQLVGRHL HLASPVQESPFYVLIETSGSNAGHD AEKLGHFLEHALGSGLVTDGTMATD QRKVKMLWALRERITEALSRDGYVY KYDLSLPVERLYDIVTDLRARLGPH AKHVVGYGHLGDGNLHLNVTAEAFS PSLLAALEPHVYEWTAGQQGSVSAE HGVGFRKRDVLGYSKPPGALQLMQQ LKALLDPKGILNPYKTLPSQATRTR PLEQKLISEEDLAANDILDYKDDDD KV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: D2HGDH D-2-hydroxyglutarate dehydrogenase [ Homo sapiens (human) ]
• Official Symbol: D2HGDH
• Synonyms: D2HGDH; D-2-hydroxyglutarate dehydrogenase; D2HGD; D-2-hydroxyglutarate dehydrogenase, mitochondrial; EC 1.1.99.-
• Gene ID: 728294
• mRNA Refseq: NM_152783
• Protein Refseq: NP_689996
• MIM: 609186
• UniProt ID: Q8N465