Human Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial ELISA Kit | HADH elisa kit

Human Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial ELISA Kit

Cat. Num. AAA3805099

• Gene Names: HADH; HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD
• Reactivity: Human
• Synonyms: Hydroxyacyl-Coenzyme A Dehydrogenase; Mitochondrial; Human Hydroxyacyl-Coenzyme A Dehydrogenase; Mitochondrial ELISA Kit; HADH elisa kit

• Reactivity: Human
• Sequence Length: 314

• Samples: Serum, plasma, cell culture supernate and other biological fluids
• Assay Type: Sandwich
• Detection Range: 100 pg/ml-1600 pg/ml
• Sensitivity: 10 pg/ml

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for HADH elisa kit

Intended Use: The Stop Solution changes the color from blue to yellow and the intensity of the color is measured at 450 nm using a spectrophotometer. In order to measure the concentration ofHYDROXYACYL-COENZYME A DEHYDROGENASE, MITOCHONDRIALin the sample, This HYDROXYACYL-COENZYME A DEHYDROGENASE, MITOCHONDRIALELISA Kit includes a set of calibration standards. The calibration standards are assayed at the same time as the samples and allow the operator to produce a standard curve of Optical Density versusHYDROXYACYL-COENZYME A DEHYDROGENASE, MITOCHONDRIALconcentration. The concentration ofHYDROXYACYL-COENZYME A DEHYDROGENASE, MITOCHONDRIALin the samples is then determined by comparing the O.D. of the samples to the standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 311033442
• NCBI GeneID: 3033
• UniProt Accession #: Q16836
• NCBI Official Full Name: Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
• NCBI Official Synonym Full Names: hydroxyacyl-CoA dehydrogenase
• NCBI Official Symbol: HADH
• NCBI Official Synonym Symbols: HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD
• NCBI Protein Information: hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
• UniProt Protein Name: Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
• Protein Family: Hydroxyacyl-coenzyme A dehydrogenase
• UniProt Gene Name: HADH
• UniProt Synonym Gene Names: HAD; HADHSC; SCHAD; HCDH
• UniProt Entry Name: HCDH_HUMAN

NCBI Description

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 Description

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; Lipid Metabolism - fatty acid elongation in mitochondria; Carbohydrate Metabolism - butanoate; Oxidoreductase; Lipid Metabolism - fatty acid; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Amino Acid Metabolism - tryptophan; EC 1.1.1.35

Chromosomal Location of Human Ortholog: 4q22-q26

Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix; mitochondrial inner membrane; cytoplasm

Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity

Biological Process: response to drug; fatty acid beta-oxidation; response to activity; cellular lipid metabolic process; negative regulation of insulin secretion; response to insulin stimulus

Disease: 3-hydroxyacyl-coa Dehydrogenase Deficiency; Hyperinsulinemic Hypoglycemia, Familial, 4