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

ACAA2 - acetyl-CoA acyltransferase 2 Gene

中文名称:乙酰辅酶 A 酰基转移酶 2

种属: Homo sapiens

同用名: DSAEC

基因 ID: 10449 | 基因类型: protein coding

关于 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.

功能概要

编码的蛋白质催化线粒体脂肪酸 β-氧化螺旋的最后一步。与大多数线粒体基质蛋白不同,它包含不可切割的氨基末端靶向信号。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_006111.3 NP_006102.2 3-ketoacyl-CoA thiolase, mitochondrial
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables acetyl-CoA C-acetyltransferase activity IDA
IDA: 通过直接分析推断
25478839 GOA
enables acetyl-CoA C-acyltransferase activity IDA
IDA: 通过直接分析推断
25478839 GOA
enables fatty acyl-CoA hydrolase activity IMP
IMP: 通过突变表型推断
25478839 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18371312 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
18371312 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ACAA2 蛋白结构

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.
蛋白主名 其他名称

3-ketoacyl-CoA thiolase, mitochondrial

T1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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