HADHA peptide

Name: HADHA peptide
SKU: DAG-P0551
Rating: 5 (1 reviews)

Synthetic HADHA peptide

COA

SDS

Datasheet

Summary

Nature

Synthetic

Tag/Conjugate

Unconjugated

SequenceSimilarities

In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.

Purity

70 - 90% by HPLC.

Format

Liquid

Preservative

None

Storage

Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.

Entrez Gene ID

3030

Antigen Description

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]

Function

3-hydroxyacyl-CoA dehydrogenase activity; NAD binding; acetyl-CoA C-acetyltransferase activity; enoyl-CoA hydratase activity; fatty-acyl-CoA binding; long-chain-3-hydroxyacyl-CoA dehydrogenase activity; long-chain-enoyl-CoA hydratase activity; protein bin

Synonyms

HADHA; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA; trifunctional enzyme subunit alpha, mitochondrial; 3-oxoacyl-CoA thiolase; gastrin-binding protein; 78 kDa gastrin-binding protein; long-chain 2-enoyl-CoA hydratase; long-chain-3-hydroxyacyl-CoA dehydrogenase; mitochondrial trifunctional enzyme, alpha subunit; mitochondrial trifunctional protein, alpha subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit;

Citations

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Documents

pdf COA

pdf SDS

pdf Datasheet

QA & Reviews

Customer Reviews

References

High Prevalence of c.1528G > C Rearrangement in Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from Ukraine

CYTOLOGY AND GENETICS

Authors: Barvinska, O.; Olkhovych, N.; Gorovenko, N.

Abstract

During 2011-2016, selective screening of hereditary disorders of amino acid and acylcarnitines metabolism identified six patients with a set of clinical symptoms and biochemical markers, which indicated a high probability of one of the two hereditary disorders of fatty acids beta-oxidation associated with complete deficiency of trifunctional protein (TFP) or isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). To differentiate these two inherited disorders, molecular genetic analysis of major missense rearrangement c.1528G > C in the HADHA gene was carried out. This mutation is associated with isolated LCHAD deficiency and the worldwide frequency of its alleles varies from 68 to 95%. As a result of this study, it was shown that this mutation was present in 100% of alleles in patients from Ukraine. Therefore, the diagnosis of isolated LCHAD deficiency was confirmed in these six patients. Thus, the preliminary frequency of isolated LCHAD deficiency in Ukraine is 1: 329968 live births at present, which is 2.1 times lower than the average for Europe.

Hypoglycaemia without ketosis. A case report

REVISTA DE NEUROLOGIA

Authors: Ferraz, C; Reis, ME; Lopes, MM; Cardoso, ML; Barbosa, CR

Abstract

Introduction. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare disease, inherited as autosomal-recessive trait, with variable clinical presentation including severe hypoglycaemia, cardiomyopathy, sudden infant death, progressive liver failure, 'Reye like' syndrome, neuromyopathy, muscle weakness and rhabdomyolysis. Case report. We report a 3 years old male patient admitted to our emergency department with vomiting, hypotonia and prostration, after a common respiratory infection. The presence of hypoketotic hypoglycaemia and elevated liver enzymes in the admission motivated a metabolic study. We found an abnormal low lactate/pyruvate ratio, decreased serum carnitine and dicarboxylic aciduria leading to the diagnosis of a fatty acid oxidation disorder (LCHADD). The molecular study of HADHA gene revealed homozygosity for the G1528C mutation in the patient DNA, and heterozygosity in both parents. Conclusions. The diagnosis of a fatty acid oxidation disorder must be considered in the presence of vomiting associated with excessive prostration specially if there is hypoketotic hypoglycaemia or familiar sudden infant death history. Physicians should be aware about these conditions and for the importance of measuring both glycaemia and ketone bodies during the evaluation of high risk situations.