Recombinant Human Glutaryl-CoA dehydrogenase, mitochondrial (GCDH)

中文名稱：

人GCDH重組蛋白
貨號：

CSB-YP849798HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人GCDH重組蛋白
貨號：

CSB-EP849798HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人GCDH重組蛋白
貨號：

CSB-EP849798HU-B
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人GCDH重組蛋白
貨號：

CSB-BP849798HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人GCDH重組蛋白
貨號：

CSB-MP849798HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

GCDH
Uniprot No.：

Q92947
別名：

ACAD5 ; EC 1.3.99.7; GCD; Gcdh; GCDH_HUMAN; Glutaryl CoA dehydrogenase; Glutaryl CoA dehydrogenase; mitochondrial ; Glutaryl Coenzyme A dehydrogenase; Glutaryl-CoA dehydrogenase; mitochondrial; MS781
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區(qū)域：

45-438
氨基酸序列

RPEFDW QDPLVLEEQL TTDEILIRDT FRTYCQERLM PRILLANRNE VFHREIISEM GELGVLGPTI KGYGCAGVSS VAYGLLAREL ERVDSGYRSA MSVQSSLVMH PIYAYGSEEQ RQKYLPQLAK GELLGCFGLT EPNSGSDPSS METRAHYNSS NKSYTLNGTK TWITNSPMAD LFVVWARCED GCIRGFLLEK GMRGLSAPRI QGKFSLRASA TGMIIMDGVE VPEENVLPGA SSLGGPFGCL NNARYGIAWG VLGASEFCLH TARQYALDRM QFGVPLARNQ LIQKKLADML TEITLGLHAC LQLGRLKDQD KAAPEMVSLL KRNNCGKALD IARQARDMLG GNGISDEYHV IRHAMNLEAV NTYEGTHDIH ALILGRAITG IQAFTASK
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產(chǎn)品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復(fù)溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

功能：

Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.
基因功能參考文獻：
1. Molecular genetics analysis identified 14 different mutations in the GCDH gene in the 18 patients with Glutaric acidemia I PMID: 28389991
2. Four mutations of the glutaryl-CoA dehydrogenase (GCDH) gene were identified among the patients with diagnosis of glutaric acidemia type I (GA-I). PMID: 29419857
3. We report the allele frequencies for three known Glutaric aciduria type I low excretors GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population PMID: 27397597
4. Our data underscore the impact of GCDH protein interactions mediated by amino acid residues on the surface of GCDH required for proper enzymatic activity PMID: 28062662
5. Mutations in GCDH gene observed in the present study indicate genetic heterogeneity in GCDH gene among South Indian population. No definite genotype-phenotype correlations were observed. PMID: 26071121
6. 2 novel mutations, p.Glu64Asp and p.Gly268Val, account for majority of disease alleles in Cypriot patients with Glutaric aciduria type I; a founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on place of origin of mutation carriers PMID: 24973495
7. Point mutation of GCDH gene is associated with glutaric academia type I. PMID: 25863083
8. 29 GCDH mutations were identified in 23 glutaric aciduria type 1 patients, including 11 novel mutations PMID: 24332224
9. Data indicate a homozygous c.1244-2A> C mutation of the glutaryl-CoA dehydrogenase (GCDH) gene in both patients. PMID: 25297592
10. These cells displayed decreased levels of GCDH tetramer. PMID: 22231382
11. Identification of GCDH gene mutations in four patients with glutaric academia type I. PMID: 23225040
12. A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13. PMID: 21912879
13. physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss PMID: 21968293
14. GCDH gene mutations are identified in 8 patients with glutaric aciduria type I PMID: 21811973
15. 12 glutaric aciduria type 1 patients were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene. PMID: 20732827
16. mutational analysis of glutaryl-CoA dehydrogenase in two patients with glutaric aciduria type 1. PMID: 20514322
17. Cerebral toxicity caused by GCDH deficiency may induce a state of arteriolar dilation and increased cerebral blood volume. PMID: 20032085
18. Three-dimensional structures of human GCD in uncomplexed form and in complex with 4-nitrobutyryl-CoA are reported, and the structural bases for the mechanisms of the dehydrogenation and decarboxylation reactions are proposed. PMID: 15274622
19. The authors report two GCDH-deficient patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. PMID: 15985591
20. An autosomal recessive disease thsat leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency, (review) PMID: 16368216
21. The major rate-determining step in the steady-state turnover of glutaryl-CoA dehydrogenase (GCD) occurs at the release of crotonyl-CoA product; the chemical steps and reoxidation of reduced FAD are much faster than the turnover of wild-type GCD. PMID: 17176108
22. GA I is caused by mutations in the GCDH gene, encoding glutaryl-CoA dehydrogenase. PMID: 17661081
23. Expression studies of four missense mutations in GCDH indicate that both enzyme instability and impaired enzyme function can underlie the autosomal recessive neurometabolic disorder glutaric aciduria type I. PMID: 18775954
24. In the oxidative decarboxylation of glutaryl-coenzyme A (CoA) that is catalyzed by glutaryl-CoA dehydrogenase, glutaconyl-CoA is the presumed enzyme-bound intermediate. PMID: 11705404
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相關(guān)疾病：

Glutaric aciduria 1 (GA1)
亞細胞定位：

Mitochondrion matrix.
蛋白家族：

Acyl-CoA dehydrogenase family
組織特異性：

Isoform Long and isoform Short are expressed in fibroblasts and liver.
數(shù)據(jù)庫鏈接：

HGNC: 4189

OMIM: 231670

KEGG: hsa:2639

STRING: 9606.ENSP00000222214

UniGene: Hs.532699