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Literature summary for 1.3.8.6 extracted from

  • van der Watt, G.; Owen, E.P.; Berman, P.; Meldau, S.; Watermeyer, N.; Olpin, S.E.; Manning, N.J.; Baumgarten, I.; Leisegang, F.; Henderson, H.
    Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans (2010), Mol. Genet. Metab., 101, 178-182.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
GCDH genotyping in black South African population, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A293T naturally occruing mutation in GCDH Homo sapiens
Q59P naturally occruing mutation in GCDH Homo sapiens
R402W naturally occruing mutation in GCDH Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
glutaryl-CoA + FAD Homo sapiens
-
crotonoyl-CoA + CO2 + FADH2
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
black South African population
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
glutaryl-CoA + FAD
-
Homo sapiens crotonoyl-CoA + CO2 + FADH2
-
?

Synonyms

Synonyms Comment Organism
GCDH
-
Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.5
-
assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
FAD
-
Homo sapiens

General Information

General Information Comment Organism
additional information glutaric aciduria type 1, GA 1, cause by glutaryl-CoA dehydrogenase deficiency, is an inherited disorder of lysine and tryptophan catabolism that typically manifests in infants with acute cerebral injury associated with intercurrent illness, phenotypoes in black South African population, overview Homo sapiens
physiological function glutaryl-CoA dehydrogenase activity is required for the catabolism of the essential ketogenic amino acids lysine and tryptophan Homo sapiens