3-Ketoacyl-CoA thiolase, peroxisomal also known as acetyl-Coenzyme A acyltransferase 1 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''ACAA1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Acetyl-Coenzyme A acyltransferase 1 is an
acetyl-CoA C-acyltransferase enzyme.
Function
This gene encodes an enzyme operative in the
beta oxidation
In biochemistry and metabolism, beta-oxidation is the 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, which enters the citric acid cyc ...
system of the
peroxisomes.
Clinical significance
Deficiency of this enzyme leads to pseudo-
Zellweger syndrome
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies ...
.
References
External links
*
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
Human proteins
{{gene-3-stub