ALDH4A1 - aldehyde dehydrogenase 4 family member A1 Gene

Also Known as P5CD; ALDH4; P5CDh

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8659

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	References	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

ALDH4A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ALDH4A1	P30038	ALDH4A1	Homo sapiens	P30038	Cosedimentation	22516612
Intra	ALDH4A1	P30038	ALDH4A1	Homo sapiens	P30038	X-Ray Diffraction	22516612

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ALDH4A1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76138	ALDH4A1 Protein, Human (sf9)	P30038 (K25-Q563)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P76139	ALDH4A1 Protein, Human (sf9, His-GST)	P30038 (K25-Q563)	≥ 80%, as determined by reducing SDS-PAGE.

ALDH4A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86769	ALDH4A1 Antibody (YA6462)	WB, IHC-P, ICC/IF, IF-Tissue	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00577	ALDH4A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20621	Aldh4a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27129	Aldh4a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28470	Tas1r2 Rat Pre-designed siRNA Set A		/	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