|Application ||WB, IF, E|
|Other Accession||NP_000010, 38, 110446 (mouse), 25014 (rat)|
|Reactivity||Human, Mouse, Rat|
|Calculated MW||45200 Da|
|Other Names||Acetyl-CoA acetyltransferase, mitochondrial, 126.96.36.199, Acetoacetyl-CoA thiolase, T2, ACAT1, ACAT, MAT|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-ACAT1 (aa253-266) Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Plays a major role in ketone body metabolism.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene 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.
Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? Rua帽o G, et al. Pharmacogenomics, 2010 Jul. PMID 20602615.
Cholesterol loading in macrophages stimulates formation of ER-derived vesicles with elevated ACAT1 activity. Sakashita N, et al. J Lipid Res, 2010 Jun. PMID 20460577.
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. Reynolds CA, et al. Hum Mol Genet, 2010 May 15. PMID 20167577.
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Fukao T, et al. Mol Genet Metab, 2010 May. PMID 20156697.
Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations. Th脤mmler S, et al. Tohoku J Exp Med, 2010 Jan. PMID 20046049.
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