Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.3.8.4 extracted from

  • Bei, F.; Sun, J.H.; Yu, Y.G.; Jia, J.; Zheng, Z.J.; Fu, Q.H.; Cai, W.
    Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant (2013), Gene, 524, 396-400.
    View publication on PubMed
Search for more literature for 1.3.8.4

Protein Variants

Protein Variants Comment Organism
I199M naturally occuring missense mutation in a Chinese infant, G39A genotype, phenotype, overview Homo sapiens
W13X naturally occuring missense mutation in a Chinese infant, C597G genotype, phenotype, overview. The mutation may destabilize the IVD monomer structure and affect the interaction between IVD and flavin adenine dinucleotide 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.
isovaleryl-CoA + FAD Homo sapiens
-
 3-methylcrotonyl-CoA + FADH2
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
isovaleryl-CoA + FAD
-
 Homo sapiens 3-methylcrotonyl-CoA + FADH2
-
 ?

Cofactor

Cofactor Comment Organism Structure
FAD
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency in isovaleryl-CoA dehydrogenase causes isovaleric acidemia, a rare inherited metabolic disease Homo sapiens