ACAA2 - acetyl-CoA acyltransferase 2 Gene

Also Known as DSAEC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10449

About ACAA2

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:49,782,164-49,813,533 (from NCBI)

This gene has 7 transcripts (splice variants), 209 orthologues and 4 paralogues. Broad expression in liver (RPKM 207.5), kidney (RPKM 133.1) and 19 other tissues.

Summary

The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]

ACAA2 Products (1)

mRNA Protein Name
NM_006111.3 NP_006102.2 3-ketoacyl-CoA thiolase, mitochondrial

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables acetyl-CoA C-acetyltransferase activity IDA
IDA: Inferred from direct assay
25478839 GOA
enables acetyl-CoA C-acyltransferase activity IDA
IDA: Inferred from direct assay
25478839 GOA
enables fatty acyl-CoA hydrolase activity IMP
IMP: Inferred from mutant phenotype
25478839 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18371312 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to hypoxia IDA
IDA: Inferred from direct assay
18371312 GOA
involved in negative regulation of mitochondrial membrane permeability involved in apoptotic process IDA
IDA: Inferred from direct assay
18371312 GOA
involved in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA
IDA: Inferred from direct assay
18371312 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
18371312 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACAA2 Protein Structure

Thiolase_N

Thiolase_N: Thiolase, N-terminal domain (5 - 266)

Thiolase_C

Thiolase_C: Thiolase, C-terminal domain (274 - 394)

  • 0
  • 100
  • 200
  • 300
  • 397 a.a.
Protein Preferred Names Protein Names

3-ketoacyl-CoA thiolase, mitochondrial

  • T1

ACAA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86760 ACAA2 Antibody (YA6453) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Alpha-Methylacetoacetic Aciduria

  • Beta-Ketothiolase Deficiency

  • 3-Ketothiolase Deficiency

  • 3-Oxothiolase Deficiency

  • Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

  • Alpha-Methylacetoaceticaciduria

  • Mat Deficiency

  • T2 Deficiency

  • 2-Methyl-3-Hydroxybutyricacidemia

  • Beta Ketothiolase Deficiency

  • Pseudo-Zellweger Syndrome

  • 2-Methyl-3-Hydroxybutyric Acidemia

  • 3-Ktd Deficiency

  • Peroxisomal Thiolase Deficiency

  • 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • 3-Alpha-Oxothiolase Deficiency

  • Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

  • Β-Ketothiolase Deficiency

  • Alpha Methylacetoacetic Aciduria

  • Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

  • Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

  • 3KTD

  • Aciduria, Alpha-Methylacetoacetic

  • Deficiency Of Acetyl-Coa Acetyltransferase

  • Deficiency Of Acetyl-Coa Acyltransferase

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Bifunctional Peroxisomal Enzyme Deficiency
Ureter Transitional Cell Carcinoma

  • Transitional Cell Carcinoma Of Ureter

  • Ureteral Urothelial Cell Carcinoma
Autonomic Peripheral Neuropathy

  • Peripheral Autonomic Nervous System Diseases
Mitochondrial Trifunctional Protein Deficiency

  • Tfp Deficiency

  • MTPD

  • Trifunctional Protein Deficiency

  • Trifunctional Protein Deficiency With Myopathy And Neuropathy

  • Tfpd

  • Familial Hypertrophic Cardiomyopathy

  • Cardiomyopathy Familial Hypertrophic

  • Familial Hcm

  • Heritable Hypertrophic Cardiomyopathy

  • Mtp Deficiency

  • Tpa Deficiency

  • Trifunctional Protein Deficiency, Type 2

  • Abetalipoproteinemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-134377 Bocidelpar Modulator 98.08% Phase 2

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00118 ACAA2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18647 Acaa2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25132 Acaa2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ACAA2 RGD RGD:620482
Bos taurus ACAA2 VGNC VGNC:25518
Mus musculus ACAA2 MGD MGI:1098623
Canis familiaris ACAA2 VGNC VGNC:53324
Macaca mulatta ACAA2 VGNC VGNC:69591
Others ACAA2 NCBI