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ACAT-1 Polyclonal Antibody, 100ul Mini dry bath Mutations in this gene cause

SKU: 41128822633

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ACAT-1 Polyclonal Antibody, 100ul Mini dry bath Mutations in this gene causeACAT1 encodes a mitochondrially localized enzyme (acetyl CoA acetyltransferase 1) that catalyzes the reversible formation of acetoacetyl CoA from two molecules of acetyl CoA. Defects in ACAT1 are associated with 3 ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2 methyl 3 hydroxybutyric acid, 2 methylacetoacetic acid, tiglylglycine, and butanone.

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Description

Mutations in this gene cause cerebellar ataxia in humans

LXN encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases

that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5

Expression of this gene has been found to be upregulated in small cell lung cancers

Sodium-hydrogen exchangers (NHEs)

ACAT-1 Polyclonal Antibody, 100ul Mini dry bath Mutations in this gene causeACAT1 encodes a mitochondrially localized enzyme (acetyl CoA acetyltransferase 1) that catalyzes the reversible formation of acetoacetyl CoA from two molecules of acetyl CoA. Defects in ACAT1 are associated with 3 ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2 methyl 3 hydroxybutyric acid, 2 methylacetoacetic acid, tiglylglycine, and butanone.

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