ALDH5A1 - aldehyde dehydrogenase 5 family member A1 Gene

Also Known as SSDH; SSADH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7915

About ALDH5A1

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:24,494,969-24,537,207 (from NCBI)

This gene has 10 transcripts (splice variants), 211 orthologues, 17 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 26.0), brain (RPKM 18.3) and 23 other tissues.

Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ALDH5A1 Products (3)

mRNA	Protein	Name
NM_001080.3	NP_001071.1	succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor
NM_001368954.1	NP_001355883.1	succinate-semialdehyde dehydrogenase, mitochondrial isoform 3
NM_170740.1	NP_733936.1	succinate-semialdehyde dehydrogenase, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16199352	GOA
enables succinate-semialdehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	9683595	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in central nervous system development	IMP IMP: Inferred from mutant phenotype	9683595	GOA
involved in gamma-aminobutyric acid catabolic process	IDA IDA: Inferred from direct assay	9683595	GOA
involved in gamma-aminobutyric acid catabolic process	IMP IMP: Inferred from mutant phenotype	15037717	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

ALDH5A1 Protein Structure

Aldedh

0
100
200
300
400
500
535 a.a.

Protein Preferred Names	Protein Names
succinate-semialdehyde dehydrogenase, mitochondrial	NAD(+)-dependent succinic semialdehyde dehydrogenase

Related Diseases

Diseases	Alias
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
Gamma-Amino Butyric Acid Metabolism Disorder	Disorder Of Gamma-Aminobutyric Acid Metabolism Disorder Of Gaba Metabolism Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Gaba-Transaminase Deficiency	Gaba Transaminase Deficiency Gamma Aminobutyric Acid Transaminase Deficiency 4 Alpha Aminobutyrate Transaminase Deficiency Abat Deficiency Gaba Transferase Deficiency Gaba-T Deficiency Gamma Aminobutyrate Transaminase Deficiency Gamma-Aminobutyrate Transaminase Deficiency Gamma-Aminobutyric Acid Transaminase Deficiency GABATD
Alcohol-Related Neurodevelopmental Disorder	Static Encephalopathy Arnd Encephalopathy, Static Alcohol Related Neurodevelopmental Disorder
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Homocarnosinosis	Homocarnosinase Deficiency Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum Spastic Paraplegia 11 Autosomal Recessive Spastic Paraplegia Type 11 Hereditary Spastic Paraplegia 11 Nakamura Osame Syndrome Spg11 Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum Serum Carnosinase Deficiency
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Gaba Aminotransferase Deficiency	Gamma-Aminobutyric Acid Transaminase Deficiency Gamma Aminobutyric Acid Transaminase Deficiency Gaba Transaminase Deficiency Gamma-Amino Butyric Acid Transaminase Deficiency 4 Alpha Aminobutyrate Transaminase Deficiency Abat Gabat Gamma Aminobutyrate Transaminase Deficiency
Status Epilepticus	Grand Mal Status Epilepticus Grand Mal Status Gcse Generalized Convulsive Status Epilepticus Se Epilepsy With Status Epilepticus
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
D-2-Hydroxyglutaric Aciduria 1	D-2-Hydroxyglutaric Aciduria D2HGA1 D-2-Hga D-2-Hydroxyglutaric Acidemia D2ha D2hga Aciduria, D-2-Hydroxyglutaric, Type 1 Combined D-2- And L-2-Hydroxyglutaric Aciduria
Hypotonia
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
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
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Megdel Syndrome MEGDEL Mgca6 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome Megdhel 3-Methylglutaconic Aciduria, Type Vi Serac1 Defect 3-Methylglutaconic Aciduria Type 6 3-Mgca Type Iv 3-Mgca-4 3-Methylglutaconic Aciduria Type Vi 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome Megdhel Syndrome 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
2-Hydroxyglutaric Aciduria	2-Hga 2-Hydroxyglutaric Acidemia 2-Hydroxyglutaricaciduria Combined D-2- And L-2-Hydroxyglutaric Aciduria
Phosphoserine Aminotransferase Deficiency	Psat Deficiency PSATD Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form Psat Deficiency, Infantile/Juvenile Form Deficiency, Phosphoserine Aminotransferase
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Childhood Electroclinical Syndrome
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
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
Fetal Alcohol Spectrum Disorder	Fetal Alcohol Spectrum Disorders Fetal Alcohol Syndrome
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00578	ALDH5A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20621	Aldh4a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ALDH5A1	MGD	MGI:2441982
Bos taurus	ALDH5A1	VGNC	VGNC:25816
Rattus norvegicus	ALDH5A1	RGD	RGD:621422
Macaca mulatta	ALDH5A1	VGNC	VGNC:69788
Felis catus	ALDH5A1	VGNC	VGNC:59738
Canis familiaris	ALDH5A1	VGNC	VGNC:37787
Others	ALDH5A1	NCBI