ALDH4A1 - aldehyde dehydrogenase 4 family member A1 Gene

Homo sapiens

Also known as P5CD; ALDH4; P5CDh

Gene ID: 8659 | Gene type: protein coding

About ALDH4A1

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:18,871,430-18,902,555 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues, 17 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 122.2), liver (RPKM 68.8) and 8 other tissues.

Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This Enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this Enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

ALDH4A1 Products(4)

mRNA	Protein	Name
NM_001161504.2	NP_001154976.1	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b
NM_001319218.2	NP_001306147.1	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform c precursor
NM_003748.4	NP_003739.2	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor
NM_170726.3	NP_733844.1	delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	4015840	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22516612	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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

ALDH4A1 Protein Structure

Aldedh

0
100
200
300
400
500
563 a.a.

Protein Preferred Names

Protein Names

delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

L-glutamate gamma-semialdehyde dehydrogenase

Recombinant ALDH4A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76138	ALDH4A1 Protein, Human (sf9)	P30038 (K25-Q563)	≥95%
HY-P76139	ALDH4A1 Protein, Human (sf9, His-GST)	P30038 (K25-Q563)	≥95%

Related Diseases

Diseases

Alias

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

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

Hyperprolinemia, Type I

Proline Oxidase Deficiency	Hyperprolinemia Type 1
HYRPRO1	Hpi
Hyperprolinemia Type I	Hyperprolinemia 1
Proline 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

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

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

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

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

Phosphoserine Aminotransferase Deficiency

Psat Deficiency	PSATD
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Psat Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoserine Aminotransferase

Hypophosphatasia, Infantile

Infantile Hypophosphatasia	HPPI
Hops	Phosphoethanolaminuria
Perinatal Lethal Hypophosphatasia	Perinatal Lethal Rathbun Disease
Perinatal Lethal Phosphoethanolaminuria	Infantile Rathbun Disease
Infantile Phosphoethanolaminuria	Hypophosphatasia, Perinatal Lethal

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

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-RS00577	ALDH4A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ALDH4A1	MGD	MGI:2443883
Bos taurus	ALDH4A1	VGNC	VGNC:25815
Rattus norvegicus	ALDH4A1	RGD	RGD:1624206
Macaca mulatta	ALDH4A1	VGNC	VGNC:69787
Felis catus	ALDH4A1	VGNC	VGNC:80133
Others	ALDH4A1	NCBI

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