ACAT1

GENE INFORMATION

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Gene name

ACAT1 (HGNC Symbol)

Synonyms

ACAT, THIL

Description

Acetyl-CoA acetyltransferase 1 (HGNC Symbol)

Entrez gene summary

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, Feb 2009]

Chromosome

11

Cytoband

q22.3

Chromosome location (bp)

108121516 - 108147776

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000075239 (version 78.38)

Entrez gene

38

UniProt

P24752 (UniProt - Evidence at protein level)

neXtProt

NX_P24752

Antibodypedia

ACAT1 antibodies
 

PROTEIN VIEW

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ACAT1-001
 
ACAT1-002
 
ACAT1-005
 
ACAT1-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACAT1-001 ENSP00000265838
ENST00000265838
P24752
Show all »
Show » Show » 427 45.2 No 0
ACAT1-002 ENSP00000299355
ENST00000299355
G3XAB4
Show all »
Show » Show » 162 17.2 No 0
ACAT1-005 ENSP00000433568
ENST00000527942
E9PKF3
Show all »
Show » Show » 54 5.4 No 0
ACAT1-009 ENSP00000436096
ENST00000528370
E9PKF3
Show all »
Show » Show » 136 14.1 No 0