ALDH3A2 - aldehyde dehydrogenase 3 family member A2 Gene

中文名称：醛脱氢酶 3 家族成员 A2

种属: Homo sapiens

同用名: SLS; FALDH; ALDH10

基因 ID: 224 | 基因类型: protein coding

关于 ALDH3A2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,648,136-19,677,596 (from NCBI)

This gene has 42 transcripts (splice variants), 227 orthologues, 17 paralogues and is associated with 5 phenotypes. Broad expression in skin (RPKM 108.4), adrenal (RPKM 94.0) and 22 other tissues.

功能概要

醛脱氢酶同工酶被认为在酒精代谢和脂质过氧化产生的醛的解毒中起主要作用。该基因产物催化长链脂肪醛氧化成脂肪酸。该基因的突变会导致 Sjogren-Larsson 综合征。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ALDH3A2 基因产物(8)

mRNA	Protein	Name
NM_000382.3	NP_000373.1	aldehyde dehydrogenase family 3 member A2 isoform 2
NM_001031806.2	NP_001026976.1	aldehyde dehydrogenase family 3 member A2 isoform 1
NM_001369136.1	NP_001356065.1	aldehyde dehydrogenase family 3 member A2 isoform 1
NM_001369137.2	NP_001356066.1	aldehyde dehydrogenase family 3 member A2 isoform 1
NM_001369138.2	NP_001356067.1	aldehyde dehydrogenase family 3 member A2 isoform 2
NM_001369139.1	NP_001356068.1	aldehyde dehydrogenase family 3 member A2 isoform 2
NM_001369146.2	NP_001356075.1	aldehyde dehydrogenase family 3 member A2 isoform 3
NM_001369148.2	NP_001356077.1	aldehyde dehydrogenase family 3 member A2 isoform 4

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 aldehyde dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	9133646	GOA
enables aldehyde dehydrogenase (NAD+) activity	IMP IMP: 通过突变表型推断	8528251	GOA
enables long-chain fatty aldehyde dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	18035827	GOA
enables long-chain-alcohol oxidase activity	IDA IDA: 通过直接分析推断	18035827	GOA
enables medium-chain fatty aldehyde dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	18035827	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25047030	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	25047030	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular aldehyde metabolic process	IDA IDA: 通过直接分析推断	9133646	GOA
involved in central nervous system development	IMP IMP: 通过突变表型推断	8528251	GOA
involved in epidermis development	IMP IMP: 通过突变表型推断	8528251	GOA
involved in hexadecanal metabolic process	IDA IDA: 通过直接分析推断	25047030	GOA
involved in peripheral nervous system development	IMP IMP: 通过突变表型推断	8528251	GOA
involved in phytol metabolic process	IMP IMP: 通过突变表型推断	15110319	GOA
involved in sesquiterpenoid metabolic process	IDA IDA: 通过直接分析推断	18035827	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in intracellular membrane-bounded organelle	IDA IDA: 通过直接分析推断	9133646	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	17510064	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

ALDH3A2 蛋白结构

Aldedh

0
100
200
300
400
485 a.a.

蛋白主名

其他名称

aldehyde dehydrogenase family 3 member A2

aldehyde dehydrogenase 10

关联疾病

疾病名称

别名

Sjogren-Larsson Syndrome

Sjögren-Larsson Syndrome	SLS
Faldh Deficiency	Fatty Aldehyde Dehydrogenase Deficiency
Fatty Acid Alcohol Oxidoreductase Deficiency	Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
Sjogren Larsson Syndrome	Fatty Alcohol:Nad+ Oxidoreductase Deficiency
Sjogren-Larsson'S Syndrome	Fadh Deficiency
Fao Deficiency	Congenital Icthyosis Mental Retardation Spasticity Syndrome
Ichthyosis Oligophrenia Syndrome	Sjoegren-Larsson Syndrome

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Quadriplegia

Tetraplegia

Tetraplegias

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism	Disorder Of Gaba Metabolism
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria	Ssadh Deficiency
Gamma-Hydroxybutyric Aciduria	Gaba Metabolic Defect
SSADHD	Ssadh
Succinate-Semialdehyde Dehydrogenase Deficiency	Gamma-Hydroxybutyricaciduria
4-Hydroxybutyricaciduria	Gamma-Hydroxybutyric Acidemia
Succinate Semialdehyde Dehydrogenase Deficiency

Hyperprolinemia

Proline Oxidase Deficiency	Hyperprolinemia Type 1
Proline Hydrogenase Deficiency	Prolinemia
Pyrroline Carboxylate Dehydrogenase Deficiency	Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Proline Dehydrogenase Deficiency	Hyperprolinemia Type 2

Combined Oxidative Phosphorylation Deficiency 20

COXPD20	Combined Oxidative Phosphorylation Defect Type 20
Oxidative Phosphorylation Deficiency, Combined, Type 20

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome	Cdpx2
Conradi-Hünermann Syndrome	Chondrodysplasia Punctata 2, X-Linked
X-Linked Dominant Chondrodysplasia Punctata	Conradi-Hunermann Syndrome
Conradi-Hünermann-Happle Syndrome	Cdpxd
Cpxd	Chondrodystrophia Calcificans Congenita
Conradi-Hunermann-Happle Syndrome	X-Linked Chondrodysplasia Punctata Type 2
Chondrodysplasia Punctata, X-Linked Dominant Type

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

Hyperprolinemia, Type Ii

Hyperprolinemia Type 2	HYRPRO2
Hpii	1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyperprolinemia Type Ii	1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Type 2 Hyperprolinemia	Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
Hyperprolinemia 2

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy	PDE
Pyridoxine Dependency With Seizures	Vitamin B6-Dependent Seizures
EPD	Aasa Dehydrogenase Deficiency
Antiquitin Deficiency	Pyridoxine Dependency
Glutamate Decarboxylase Deficiency	Pyridoxine-Dependent Seizures
Deficiency Of Glutamate Decarboxylase

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease	CDS
Neutral Lipid Storage Disease With Ichthyosis	Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
Triglyceride Storage Disease With Ichthyosis	Nlsdi
Ichthyotic Neutral Lipid Storage Disease	Dorfman-Chanarin Syndrome
Dcs	Chanarin-Dorfman Disease
Ichthyosiform Erythroderma With Leukocyte Vacuolation	Lipidosis With Triglyceride Storage Disease
Disorder Of Cornification 12	Dorfman Chanarin Syndrome
Neutral Lipid Storage Disease With Ichthyotic	Dorfman-Chanarin Disease

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

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

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

Zellweger Syndrome

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

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-RS00574	ALDH3A2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS00576	ALDH3B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ALDH3A2	MGD	MGI:1353452
Felis catus	ALDH3A2	VGNC	VGNC:59737
Bos taurus	ALDH3A2	VGNC	VGNC:25814
Canis familiaris	ALDH3A2	VGNC	VGNC:53261
Rattus norvegicus	ALDH3A2	RGD	RGD:61866
Macaca mulatta	ALDH3A2	VGNC	VGNC:69785

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