Peroxisomal acyl-coenzyme A oxidase 1 is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''ACOX1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
The protein encoded by this
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
is the first enzyme of the
fatty acid
In chemistry, in particular in biochemistry, a fatty acid is a carboxylic acid with an aliphatic chain, which is either saturated and unsaturated compounds#Organic chemistry, saturated or unsaturated. Most naturally occurring fatty acids have an ...
beta-oxidation
In biochemistry and metabolism, beta oxidation (also β-oxidation) is the Catabolism, catabolic process by which fatty acid molecules are broken down in the cytosol in prokaryotes and in the mitochondria in eukaryotes to generate acetyl-CoA. Acetyl ...
pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing
hydrogen peroxide
Hydrogen peroxide is a chemical compound with the formula . In its pure form, it is a very pale blue liquid that is slightly more viscosity, viscous than Properties of water, water. It is used as an oxidizer, bleaching agent, and antiseptic, usua ...
. Defects in this gene result in pseudoneonatal
adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a genetic disorder, disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisome#Metabolic functions, peroxisomal fatty acid beta oxidation which results in the accumulation ...
, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.
Clinical features of ACOX1 deficiency generally include hypotonia and neonatal seizures.
See also
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ACOX3
Peroxisomal acyl-coenzyme A oxidase 3 is an enzyme that in humans is encoded by the ''ACOX3'' gene.
Acyl-Coenzyme A oxidase 3 also known as pristanoyl-CoA oxidase (ACOX3) is involved in the desaturation of 2-methyl branched fatty acids in peroxi ...
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Acyl-CoA oxidase
In enzymology, an acyl-CoA oxidase () is an enzyme that catalyzes the chemical reaction
:acyl-CoA + O2 \rightleftharpoons trans-2,3-dehydroacyl-CoA + H2O2
Thus, the two substrates of this enzyme are acyl-CoA and O2, whereas its two products ar ...
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Acyl-CoA oxidase deficiency
References
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Human proteins
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