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Literature summary for 1.1.1.35 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
Search for more literature for 1.1.1.35

Protein Variants

Protein Variants Comment Organism
M188V naturally occuring enzyme mutation, clinical data, overview Homo sapiens
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
P258L naturally occuring enzyme mutation, clinical data, overview Homo sapiens
R236X naturally occuring enzyme mutation, clinical data, overview Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens Q16836
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
NAD+
-
 Homo sapiens
NADH
-
 Homo sapiens

General Information

General Information Comment Organism
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
physiological function important role for HADH in insulin secretion Homo sapiens