ALDH3A2 - aldehyde dehydrogenase 3 family member A2 Gene

Also Known as SLS; FALDH; ALDH10

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 224

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	9133646	GOA
enables aldehyde dehydrogenase (NAD+) activity	IMP IMP: Inferred from mutant phenotype	8528251	GOA
enables long-chain fatty aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	18035827	GOA
enables long-chain-alcohol oxidase activity	IDA IDA: Inferred from direct assay	18035827	GOA
enables medium-chain fatty aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	18035827	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25047030	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	25047030	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cellular aldehyde metabolic process	IDA IDA: Inferred from direct assay	9133646	GOA
involved in central nervous system development	IMP IMP: Inferred from mutant phenotype	8528251	GOA
involved in epidermis development	IMP IMP: Inferred from mutant phenotype	8528251	GOA
involved in hexadecanal metabolic process	IDA IDA: Inferred from direct assay	25047030	GOA
involved in peripheral nervous system development	IMP IMP: Inferred from mutant phenotype	8528251	GOA
involved in phytol metabolic process	IMP IMP: Inferred from mutant phenotype	15110319	GOA
involved in sesquiterpenoid metabolic process	IDA IDA: Inferred from direct assay	18035827	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	9133646	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	17510064	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH3A2 Protein Structure

Aldedh

0
100
200
300
400
485 a.a.

Protein Preferred Names	Protein Names
aldehyde dehydrogenase family 3 member A2	aldehyde dehydrogenase 10

ALDH3A2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P81326	ALDH3A2 Antibody (YA1071)	WB	Human
HY-P81326A	ALDH3A2 Antibody (YA1071)(PBS only)	WB	Human
HY-P85417	ALDH3A2 Antibody (YA5109)	WB, IHC-P	Human

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS00574	ALDH3A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19538	Aldh3a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00576	ALDH3B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26034	Aldh3a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	ALDH3A2	NCBI