ACOX1 - acyl-CoA oxidase 1 Gene

中文名称：酰基辅酶 A 氧化酶 1

种属: Homo sapiens

同用名: AOX; ACOX; SCOX; MITCH; PALMCOX

基因 ID: 51 | 基因类型: protein coding

关于 ACOX1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,941,507-75,979,166 (from NCBI)

This gene has 13 transcripts (splice variants), 214 orthologues, 14 paralogues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 40.5), duodenum (RPKM 21.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质是脂肪酸 β-氧化途径的第一个酶，它催化酰基辅酶 A 去饱和为 2-反式烯酰辅酶 A。它直接向分子氧提供电子，从而产生过氧化氢。该基因的缺陷导致假新生儿肾上腺脑白质营养不良，这是一种以超长链脂肪酸积累为特征的疾病。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is the first Enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ACOX1 基因产物(3)

mRNA	Protein	Name
NM_001185039.2	NP_001171968.1	peroxisomal acyl-coenzyme A oxidase 1 isoform c
NM_004035.7	NP_004026.2	peroxisomal acyl-coenzyme A oxidase 1 isoform a
NM_007292.6	NP_009223.2	peroxisomal acyl-coenzyme A oxidase 1 isoform b

ACOX1 蛋白结构

Acyl-CoA_ox_N

Acyl-CoA_dh_M

ACOX

0
200
400
600
660 a.a.

蛋白主名

其他名称

peroxisomal acyl-coenzyme A oxidase 1

acyl-CoA oxidase 1, palmitoyl

重组 ACOX1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75541	ACOX1 Protein, Human (sf9, His)	AAH08767.1 (M1-L660)	≥95%

关联疾病

疾病名称

别名

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

Mitchell Syndrome

MITCH

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy	ALD
Siemerling-Creutzfeldt Disease	X-Ald
X-Linked Cerebral Adrenoleukodystrophy	Bronze Schilder Disease
Melanodermic Leukodystrophy	Addison Disease And Cerebral Sclerosis
Adrenomyeloneuropathy, Adult	Diffuse Sclerosis
X-Cald	Adrenomyeloneuropathy
Encephalitis Periaxialis Concentrica	Encephalitis Periaxialis, Schilder'S
Sudanophilic Cerebral Sclerosis	Ald Childhood Cerebral Form
Adrenoleukodystrophy X-Linked Cerebral Form	Adrenoleukodystrophy Childhood Cerebral Form
Childhood Cerebral Ald	Schilder Disease
X-Linked Ald	Adrenoleukodystrophy, X-Linked
Amn	Diffuse Cerebral Sclerosis Of Schilder
Systemic Scleroderma	Balo'S Concentric Sclerosis
Ald - [Adrenoleukodystrophy]	Addison-Schilder

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

Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1	RCDP1
Peroxisome Biogenesis Disorder 9	Pbd9
Chondrodysplasia Punctata, Rhizomelic Form	Cdpr
Chondrodystrophia Calcificans Punctata	Rhizomelic Chondrodysplasia Punctata 1
Chondrodysplasia Punctata, Rhizomelic, Type 1	Chondrodysplasia Punctata, Rhizomelic

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Leukodystrophy

Leukodystrophies

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Fatty Liver Disease

Alcoholic Fatty Liver	Fatty Liver
Fatty Liver, Alcoholic	Fatty Change Of Liver
Hepatic Lipidosis	Steatosis Of Liver
Fatty Liver Alcoholic	Steatohepatitis
Etoh Fatty Liver	Etoh Fatty Liver Metamorphosis
Fatty Etoh Liver Necrosis

Neonatal Adrenoleukodystrophy

Nald	Adrenoleukodystrophy Autosomal Neonatal Form
Intermediate Pbd-Zsd	Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Adrenoleukodystrophy, Autosomal, Neonatal Form	Adrenoleukodystrophy Neonatal
Adrenoleukodystrophy, Neonatal

Non-Alcoholic Fatty Liver Disease

Fatty Liver	Non-Alcoholic Fatty Liver
Nafld	Nonalcoholic Fatty Liver Disease
Nonalcoholic Steatohepatitis	Steatosis
Nafl	Nash
Non-Alcoholic Steatohepatitis	Susceptibility To Nonalcoholic Fatty Liver Disease
Steatohepatitis	Fatty Degeneration
Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis	Nafld Without Nash
Nafld Without Mention Of Nash

Retinal Dystrophy With Leukodystrophy

RDLKD	Acbd5 Deficiency
Dystrophy, Retinal, With Leukodystrophy

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

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis	Nash
Nash - [Non-Alcoholic Steatohepatitis]	Non-Alcoholic Steatohepatosis

Polyneuropathy

Polyneuropathies

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-135425	10,12-Tricosadiynoic acid	Inhibitor	99.45%	否
HY-RS00182	ACOX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ACOX1	VGNC	VGNC:69380
Mus musculus	ACOX1	MGD	MGI:1330812
Felis catus	ACOX1	VGNC	VGNC:59522
Canis familiaris	ACOX1	VGNC	VGNC:37521
Bos taurus	ACOX1	VGNC	VGNC:25552
Rattus norvegicus	ACOX1	RGD	RGD:619757
Others	ACOX1	NCBI

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