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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_C

0
100
200
300
397 a.a.

Protein Preferred Names	Protein Names
3-ketoacyl-CoA thiolase, mitochondrial	T1

ACAA2 Antibodies

Cat. No.	상품명	신청	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.	상품명	효과	Purity	Phase
HY-134377	Bocidelpar	Modulator	98.08%	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	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