ALDH3B1 - aldehyde dehydrogenase 3 family member B1 Gene

Homo sapiens

Also known as ALDH4; ALDH7

Gene ID: 221 | Gene type: protein coding

About ALDH3B1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,008,547-68,029,276 (from NCBI)

This gene has 9 transcripts (splice variants), 355 orthologues and 17 paralogues. Broad expression in lung (RPKM 26.2), bone marrow (RPKM 14.3) and 17 other tissues.

Summary

This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ALDH3B1 Products(5)

mRNA	Protein	Name
NM_000694.4	NP_000685.1	aldehyde dehydrogenase family 3 member B1 isoform a
NM_001030010.3	NP_001025181.1	aldehyde dehydrogenase family 3 member B1 isoform b
NM_001161473.3	NP_001154945.1	aldehyde dehydrogenase family 3 member B1 isoform a
NM_001290058.2	NP_001276987.1	aldehyde dehydrogenase family 3 member B1 isoform c
NM_001290059.2	NP_001276988.1	aldehyde dehydrogenase family 3 member B1 isoform d

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aldehyde dehydrogenase [NAD(P)+] activity	IDA IDA: Inferred from direct assay	20699116	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within aldehyde catabolic process	IDA IDA: Inferred from direct assay	20699116	GOA
acts upstream of or within cellular response to oxidative stress	IDA IDA: Inferred from direct assay	20699116	GOA
acts upstream of or within response to oxidative stress	IDA IDA: Inferred from direct assay	20699116	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20699116	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

ALDH3B1 Protein Structure

Aldedh

0
100
200
300
400
429 a.a.

Protein Preferred Names

Protein Names

aldehyde dehydrogenase family 3 member B1

aldehyde dehydrogenase 3B1

Related Diseases

Diseases

Alias

Paranoid Schizophrenia

Chronic Paranoid Schizophrenia	Paranoid Type Schizophrenia
Paranoid Type Schizophrenia Subchronic State	Paraphrenia - Late
Paraphrenic Schizophrenia	Schizophrenia, Paranoid

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

Paraneoplastic Polyneuropathy

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

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

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-RS00575	ALDH3B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALDH3B1	VGNC	VGNC:56255
Macaca mulatta	ALDH3B1	VGNC	VGNC:69789
Mus musculus	ALDH3B1	MGD	MGI:1914939
Rattus norvegicus	ALDH3B1	RGD	RGD:1359546
Canis familiaris	ALDH3B1	VGNC	VGNC:51840

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