GCDH Antibody, Biotin conjugated

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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HGNC: 4189

OMIM: 231670

KEGG: hsa:2639

STRING: 9606.ENSP00000222214

UniGene: Hs.532699