Not available outside of the UK & Ireland.
General description
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. (provided by RefSeq)
Immunogen
ACAT1 (AAH10942, 1 a.a. ~ 162 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceMAVLPALLRSGARSRSPLLRRLVQEIRYVERSYVSKPTLKEVVIVSATRTPIGSFLGSLSLLPATKLGSIAIQGAIEKAGIPKEEVKEAYMGNVLQGGEGQAPTRQAVLGAGLPISTPCTTINKVCASGMKAIMMASQSLMCGHQIKQETGSLAKICCHVRR
Physical form
Solution in phosphate buffered saline, pH 7.4
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