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Literature summary extracted from

  • Heslegrave, A.; Hussain, K.
    Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase (2013), J. Clin. Endocrinol. Metab., 98, 496-501.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.1.1.35 M188V naturally occuring enzyme mutation, clinical data, overview Homo sapiens
1.1.1.35 additional information identified naturally occuring enzyme mutations are P258L, c.547-3_549del, c.547-3_549del, IVS6-2a>g, M188V, R236X, c.587delC, c.587delC, C.587delC, and c.261+IG>A from human hyperinsulinemic hypoglycemia patients, clinical data, overview Homo sapiens
1.1.1.35 P258L naturally occuring enzyme mutation, clinical data, overview Homo sapiens
1.1.1.35 R236X naturally occuring enzyme mutation, clinical data, overview Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.1.1.35 (S)-3-hydroxyacyl-CoA + NAD+ Homo sapiens
-
 3-oxoacyl-CoA + NADH + H+
-
 r

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.35 Homo sapiens Q16836
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.1.1.35 Langerhans cell activity of the enzyme it encodes is particularly high in the pancreas and especially in the islets of Langerhans Homo sapiens
-
1.1.1.35 additional information the HADH gene is expressed in most tissues Homo sapiens
-
1.1.1.35 pancreas high HADH expression level, activity of the enzyme it encodes is particularly high in the pancreas and especially in the islets of Langerhans Homo sapiens
-
1.1.1.35 pancreatic beta cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.1.1.35 (S)-3-hydroxyacyl-CoA + NAD+
-
 Homo sapiens 3-oxoacyl-CoA + NADH + H+
-
 r

Synonyms

EC Number Synonyms Comment Organism
1.1.1.35 HADH
-
 Homo sapiens
1.1.1.35 L-3-hydroxyacyl-CoA dehydrogenase
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.1.1.35 NAD+
-
 Homo sapiens
1.1.1.35 NADH
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.1.1.35 malfunction mutations in HADH cause hyperinsulinemic hypoglycemia that is precipitated by protein in a similar manner to the hyperinsulinism/hyperammonemia (HI/HA) syndrome, which is caused by mutations in the GLUD1 gene, encoding the enzyme glutamate dehydrogenase (GDH), suggesting a link between mitochondrial fatty acid oxidation, amino acid metabolism, and insulin secretion, clinical phenotypes, overview Homo sapiens
1.1.1.35 physiological function important role for HADH in insulin secretion Homo sapiens