NP_001171634.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
36,051 Da
NCBI Official Full Name
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1
NCBI Official Synonym Full Names
hydroxyacyl-CoA dehydrogenase
NCBI Official Synonym Symbols
HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD [Similar Products]
NCBI Protein Information
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
UniProt Protein Name
Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
UniProt Synonym Protein Names
Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase; Short-chain 3-hydroxyacyl-CoA dehydrogenase
UniProt Synonym Gene Names
NCBI Summary for HADH
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
UniProt Comments for HADH
HADHSC: Plays an essential role in the mitochondrial beta- oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. Defects in HADH are the cause of 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency). HADH deficiency is a metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. Defects in HADH are the cause of familial hyperinsulinemic hypoglycemia type 4 (HHF4); also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - tryptophan; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - butanoate; EC 1.1.1.35; Lipid Metabolism - fatty acid; Lipid Metabolism - fatty acid elongation in mitochondria; Oxidoreductase
Chromosomal Location of Human Ortholog: 4q25
Cellular Component: cytoplasm; mitochondrial inner membrane; mitochondrial matrix; mitochondrion; nucleoplasm
Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; NAD+ binding
Biological Process: fatty acid beta-oxidation; negative regulation of insulin secretion; response to activity; response to drug; response to insulin stimulus
Disease: 3-hydroxyacyl-coa Dehydrogenase Deficiency; Hyperinsulinemic Hypoglycemia, Familial, 4
Research Articles on HADH
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-HADH antibody
Pathways associated with anti-HADH antibody
Diseases associated with anti-HADH antibody
Organs/Tissues associated with anti-HADH antibody
|