1. Gene
  2. AOX1 - aldehyde oxidase 1 Gene

AOX1 - aldehyde oxidase 1 Gene

中文名称:醛氧化酶 1

种属: Homo sapiens

同用名: AO; AOH1

基因 ID: 316 | 基因类型: protein coding

关于 AOX1

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:200,586,014-200,682,241 (from NCBI)

This gene has 8 transcripts (splice variants), 192 orthologues and 1 paralogue. Biased expression in liver (RPKM 241.2), adrenal (RPKM 172.5) and 5 other tissues.

功能概要

醛氧化酶产生过氧化氢,并且在一定条件下可以催化超氧化物的形成。醛氧化酶是肌萎缩侧索硬化的候选基因。[RefSeq 提供,2008 年 7 月]

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

AOX1 基因产物(1)

mRNA Protein Name
NM_001159.4 NP_001150.3 aldehyde oxidase

AOX1 蛋白结构

Fer2

Fer2: 2Fe-2S iron-sulfur cluster binding domain (10 - 78)

Fer2_2

Fer2_2: [2Fe-2S] binding domain (88 - 162)

FAD_binding_5

FAD_binding_5: FAD binding domain in molybdopterin dehydrogenase (240 - 418)

CO_deh_flav_C

CO_deh_flav_C: CO dehydrogenase flavoprotein C-terminal domain (426 - 530)

Ald_Xan_dh_C

Ald_Xan_dh_C: Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain (594 - 700)

Ald_Xan_dh_C2

Ald_Xan_dh_C2: Molybdopterin-binding domain of aldehyde dehydrogenase (712 - 1245)

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  • 1338 a.a.
蛋白主名 其他名称

aldehyde oxidase

azaheterocycle hydroxylase

关联疾病

疾病名称 别名
Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency

Mocod

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

Deficiency Of Molybdenum Cofactor

Deficiency, Molybdenum Cofactor

Xanthinuria, Type Ii

Xanthinuria Type Ii

XAN2

Xdh And Aox Dual Deficiency

Xanthine Dehydrogenase And Aldehyde Oxidase, Combined Deficiency Of

Xanthinuria Type 2

Type 2 Xanthinuria

Type Ii Xanthinuria

Xanthine Dehydrogenase And Aldehyde Oxidase Combined Deficiency Of

Xanthine Dehydrogenase And Xanthine Aldehyde Oxidase Dual Deficiency

Xanthinuria 2

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xanthic Urolithiasis

Xanthinuria, Type I

Xanthine Dehydrogenase Deficiency

Xdh Deficiency

Xanthine Oxidase Deficiency

XAN1

Xanthinuria Type 1

Type 1 Xanthinuria

Xanthinuria Type I

Xo Deficiency

Xor Deficiency

Xanthine Oxidoreductase Deficiency

Xanthinuria 1

Xanthic Urolithiasis

Urolithiasis

Molybdenum Cofactor Deficiency, Complementation Group B

MOCODB

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B

Molybdenum Cofactor Deficiency B

Molybdenum Cofactor Deficiency Type B

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B

Mocod Type B

Molybdenum Cofactor Deficiency Complementation Group B

Deficiency, Molybdenum Cofactor, Complementation Group B

Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency

Sulfocysteinuria

Isolated Sulfite Oxidase Deficiency

ISOD

Encephalopathy Due To Sulfite Oxidase Deficiency

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Molybdenum Cofactor Deficiency, Complementation Group C

MOCODC

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C

Molybdenum Cofactor Deficiency C

Molybdenum Cofactor Deficiency Type C

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C

Mocod Type C

Molybdenum Cofactor Deficiency Complementation Group C

Deficiency, Molybdenum Cofactor, Complementation Group C

Epilepsy, Early-Onset, Vitamin B6-Dependent

EPVB6D

Early-Onset Vitamin B6-Dependent Epilepsy

Molybdenum Cofactor Deficiency, Complementation Group A

MOCODA

Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A

Molybdenum Cofactor Deficiency A

Molybdenum Cofactor Deficiency Type A

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A

Mocod Type A

Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of

Molybdenum Cofactor Deficiency Complementation Group A

Molybdenum Cofactor Deficiency, Type A

Deficiency, Molybdenum Cofactor, Complementation Group A

Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1

Methylmalonic Aciduria And Homocystinuria Type Cbld

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2

MAHCD

Methylmalonic Acidemia And Homocystinuria, Cbld Type

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylmalonic Aciduria, Cbld Type, Variant 2

Cobalamin D Deficiency

Methylcobalamin Deficiency Type Cbldv1

Functional Methionine Synthase Deficiency Type Cbldv1

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Acidemia With Homocystinuria, Type Cbld

Cbld Defect

Cobalamin D Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

Methylmalonic Aciduria With Homocystinuria, Type Cbld

Homocystinuria Cbld Variant 1

Methylmalonic Acidemia And Homocystinuria Cbld Type

Methylmalonic Aciduria And Homocystinuria Cbld-Combined

Methylmalonic Aciduria And Homocystinuria Cbld Original

Methylmalonic Aciduria Cbld Variant 2

Aciduria, Methylmalonic, And Homocystinuria, Cbld Type

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Bos taurus AOX1 VGNC VGNC:25974
Rattus norvegicus AOX1 RGD RGD:620528
Macaca mulatta AOX1 VGNC VGNC:69956
Mus musculus AOX1 MGD MGI:88035
Others AOX1 NCBI