1. Gene
  2. ACAA2 - acetyl-CoA acyltransferase 2 Gene

ACAA2 - acetyl-CoA acyltransferase 2 Gene

Homo sapiens

Also known as DSAEC

Gene ID: 10449 | Gene type: protein coding

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

ACAA2 Protein Structure

Thiolase_N

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

Thiolase_C

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

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  • 397 a.a.
Protein Preferred Names Protein Names

3-ketoacyl-CoA thiolase, mitochondrial

T1

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

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