ALDH7A1 - aldehyde dehydrogenase 7 family member A1 Gene

Homo sapiens

Also known as EPD; PDE; ATQ1

Gene ID: 501 | Gene type: protein coding

About ALDH7A1

Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:126,541,841-126,595,219 (from NCBI)

This gene has 37 transcripts (splice variants), 205 orthologues, 17 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.7), liver (RPKM 24.1) and 24 other tissues.

Summary

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These Enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]

ALDH7A1 Products(3)

mRNA	Protein	Name
NM_001182.5	NP_001173.2	alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor
NM_001201377.2	NP_001188306.1	alpha-aminoadipic semialdehyde dehydrogenase isoform 2
NM_001202404.2	NP_001189333.2	alpha-aminoadipic semialdehyde dehydrogenase isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	20207735	GOA
enables betaine-aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	20207735	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	20207735	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21988832	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	20207735	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	20207735	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

ALDH7A1 Protein Structure

Aldedh

0
100
200
300
400
500
539 a.a.

Protein Preferred Names

Protein Names

alpha-aminoadipic semialdehyde dehydrogenase

26g turgor protein homolog

Recombinant ALDH7A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76140	ALDH7A1 Protein, Human (His)	P49419-2 (S2-Q511)	≥95%

Related Diseases

Diseases

Alias

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

Hydrocephalus, Congenital, 1

Hydrocephaly	Ventriculomegaly
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	HYC1
Congenital Non-Communicating Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
Congenital Obstructive Hydrocephalus	Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
Hydrocephalus

Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13	DEE13
Eiee13	Developmental And Epileptic Encephalopathy, 13
Early Infantile Epileptic Encephalopathy 13	Scn8a Encephalopathy
Early Infantile Epileptic Encephalopathy-13	Scn8a Epilepsy
Encephalopathy, Developmental And Epileptic, Type 13

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

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

Pnpo Deficiency	Pyridoxamine 5'-Phosphate Oxidase Deficiency
Pnpo-Related Neonatal Epileptic Encephalopathy	Pyridoxal Phosphate-Responsive Seizures
Pyridoxal 5'-Phosphate-Dependent Epilepsy	Pyridoxine-5'-Phosphate Oxidase Deficiency
PNPOD	Seizures, Pyridoxine-Resistant, Plp-Sensitive
Pyridoxal Phosphate-Dependent Seizures	Pyridoxamine 5'-Oxidase Deficiency
Epileptic Encephalopathy, Neonatal, Pnpo-Related	Pyridox Ine 5'-Phosphate Oxidase Deficiency
Deficiency, Pyridoxamine 5'-Phosphate Oxidase

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Nonarteritic Anterior Ischemic Optic Neuropathy

Anterior Ischemic Optic Neuropathy	Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
NAION	Non-Arteritic Anterior Ischemic Optic Neuropathy
Ischemic Optic Neuropathy	Aion
Optic Neuropathy, Ischemic	Naion, Susceptibility To
Optic Neuropathy, Anterior Ischemic	Optic Neuropathy, Anterior Ischemic, Susceptibility To
Non-Arteritic Anterior Ischaemic Optic Neuropathy	Nonarteritic Anterior Ischaemic Optic Neuropathy
Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To	Ion - [Ischemic Optic Neuropathy]
Neuropathic Ischaemia Of N.Opticus	Ischaemic Neuropathy Of Optic Nerve

Null-Cell Leukemia

Null Cell Acute Lymphoblastic Leukemia	Null Cell Acute Lymphoblastic Leukaemia
Null-Cell Leukaemia

Status Epilepticus

Grand Mal Status Epilepticus	Grand Mal Status
Gcse	Generalized Convulsive Status Epilepticus
Se	Epilepsy With Status Epilepticus

Retinitis Pigmentosa 72

RP72	Retinitis Pigmentosa, Type 72

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

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

Psychosexual Disorder

Psychosexual Disorders

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

Acrodysostosis

Acrodysplasia	Arkless-Graham Syndrome
Maroteaux-Malamut Syndrome	Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome
Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Developmental And Epileptic Encephalopathy 21

DEE21	Epileptic Encephalopathy, Early Infantile, 21
Eiee21	Developmental And Epileptic Encephalopathy, 21
Early Infantile Epileptic Encephalopathy 21	Encephalopathy, Epileptic, Early Infantile, Type 21

Penile Disease

Penile Diseases

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Retinitis Pigmentosa 90

RP90	Retinitis Pigmentosa, Type 90

Rapp-Hodgkin Syndrome

RHS	Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
Ectodermal Dysplasia, Rapp-Hodgkin Type	Rapp-Hodgkin Ectodermal Dysplasia Syndrome
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate	Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
Edrh	Rapp-Hodgkin Ectodermal Dysplasia
Orofacial Cleft 8

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Capillary Lymphangioma

Microcystic Lymphatic Malformation	Capillary Lymphatic Malformation
Microcystic Infiltrating Lymphatic Malformation	Microcystic Lymphangioma
Superficial Lymphangioma	Cutaneous Lymphangioma Circumscriptum
Superficial Lymphatic Malformation	Cutaneous Lymphangioma
Lymphangioma Of Skin	Lymphangioma Circumscriptum

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa	Foramen Ovale Patent
Ostium Secundum Atrial Septal Defect	Atrial Septal Defect, Ostium Secundum Type
Foramen Ovale, Patent	Defect, Patent Or Persistent, Ostium Secundum
Ostium Secundum Type Atrial Septal Defect	Persistent Ostium Secundum
Asd Ostium Secundum Type	Ostium Secundum Asd
Osasd	Asd, Ostium Secundum Type
Pfo - [Patent Foramen Ovale]	Open Foramen Ovale
Open Oval Foramen	Persistent Foramen Ovale
Secundum Atrial Septal Defect

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00580	ALDH7A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ALDH7A1	MGD	MGI:108186
Felis catus	ALDH7A1	VGNC	VGNC:68749
Macaca mulatta	ALDH7A1	VGNC	VGNC:110486
Bos taurus	ALDH7A1	VGNC	VGNC:25818
Canis familiaris	ALDH7A1	VGNC	VGNC:37789
Rattus norvegicus	ALDH7A1	RGD	RGD:1308614
Others	ALDH7A1	NCBI