2. Gene
  3. ACOX2 - acyl-CoA oxidase 2 Gene

ACOX2 - acyl-CoA oxidase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：酰基辅酶 A 氧化酶 2

种属: Homo sapiens

同用名: BCOX; BRCOX; CBAS6; THCCox; BRCACOX

基因 ID: 8309 | 基因类型: protein coding

关于 ACOX2

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,505,136-58,537,190 (from NCBI)

This gene has 13 transcripts (splice variants), 150 orthologues, 14 paralogues and is associated with 1 phenotype. Broad expression in liver (RPKM 44.4), kidney (RPKM 24.1) and 15 other tissues.

功能概要

该基因的产物属于酰基辅酶 A 氧化酶家族。它编码支链酰基辅酶 A 氧化酶，该酶参与过氧化物酶体中长支链脂肪酸和胆汁酸中间体的降解。这种酶的缺乏会导致支链脂肪酸和胆汁酸中间体的积累，并可能导致齐薇格综合征、严重的认知障碍和儿童死亡。[RefSeq 提供，2009 年 3 月]

The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this Enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]

ACOX2 基因产物(1)

mRNA Protein Name
NM_003500.4 NP_003491.1 peroxisomal acyl-coenzyme A oxidase 2
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 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity IDA
IDA: 通过直接分析推断
27884763 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bile acid biosynthetic process IDA
IDA: 通过直接分析推断
27884763 GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase IDA
IDA: 通过直接分析推断
27884763 GOA
involved in fatty acid beta-oxidation using acyl-CoA oxidase IMP
IMP: 通过突变表型推断
27884763 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in peroxisome IDA
IDA: 通过直接分析推断
2079609 GOA
located in peroxisome IMP
IMP: 通过突变表型推断
27884763 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

ACOX2 蛋白结构

Acyl-CoA_ox_N

Acyl-CoA_ox_N: Acyl-coenzyme A oxidase N-terminal (32 - 148)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (151 - 207)

ACOX

ACOX: Acyl-CoA oxidase (493 - 676)

  • 0
  • 200
  • 400
  • 600
  • 681 a.a.
蛋白主名 其他名称

peroxisomal acyl-coenzyme A oxidase 2

3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase

ACOX2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ACOX2 Q99424 STRN3 Homo sapiens Q13033
Anti Tag CoIP
33961781
种属内
ACOX2 Q99424 STRN3 Homo sapiens Q13033
Anti Tag CoIP
28514442
种属内
ACOX2 Q99424 DYNLT1 Homo sapiens P63172
Y2H Prey Pooling
32296183
种属内
ACOX2 Q99424 DYNLT1 Homo sapiens P63172
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Bile Acid Synthesis Defect, Congenital, 6

Congenital Bile Acid Synthesis Defect 6

CBAS6
Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cba

Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency

Basd

Bile Acid Synthesis Defect, Congenital, 1
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD
D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency

Dbp Deficiency

Peroxisomal Bifunctional Enzyme Deficiency

Pbfe Deficiency

Bifunctional Enzyme Deficiency

Pseudo-Zellweger Syndrome

Zellweger-Like Syndrome

DBPD

Protein Deficiency, D-Bifunctional
Peroxisomal Acyl-Coa Oxidase Deficiency

Pseudoneonatal Adrenoleukodystrophy

Straight-Chain Acyl-Coa Oxidase Deficiency

Pseudoadrenoleukodystrophy

PSEUDO-NALD

Pseudo-Neonatal Adrenoleukodystrophy

Acyl-Coa Oxidase Deficiency

Peroxisomal Acyl-Coenzyme A Oxidase

Acyl-Coenzyme A Oxidase Deficiency

Adrenoleukodystrophy, Pseudoneonatal

Deficiency, Peroxisomal Acyl-Coa Oxidase
Heart Cancer

Malignant Neoplasm Of Heart

Heart Neoplasm

Cardiac Tumor

Malignant Cardiac Tumor

Tumour Of Heart

Heart Neoplasms

Cardiac Carcinoma
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00183 ACOX2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ACOX2 VGNC VGNC:59523
Rattus norvegicus ACOX2 RGD RGD:628684
Mus musculus ACOX2 MGD MGI:1934852
Bos taurus ACOX2 VGNC VGNC:25553
Macaca mulatta ACOX2 VGNC VGNC:69381
Canis familiaris ACOX2 VGNC VGNC:37522
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