ALDH3B2 - aldehyde dehydrogenase 3 family member B2 Gene

Homo sapiens

Also known as ALDH8

Gene ID: 222 | Gene type: protein coding

About ALDH3B2

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,662,155-67,681,252 (from NCBI)

This gene has 12 transcripts (splice variants), 230 orthologues and 17 paralogues. Biased expression in skin (RPKM 44.3), esophagus (RPKM 44.2) and 3 other tissues.

Summary

This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]

ALDH3B2 Products(5)

mRNA	Protein	Name
NM_001031615.3	NP_001026786.3	aldehyde dehydrogenase family 3 member B2 isoform a
NM_001354345.3	NP_001341274.2	aldehyde dehydrogenase family 3 member B2 isoform a
NM_001393400.1	NP_001380329.1	aldehyde dehydrogenase family 3 member B2 isoform a
NM_001393401.1	NP_001380330.1	aldehyde dehydrogenase family 3 member B2 isoform b
NM_001393402.2	NP_001380331.1	aldehyde dehydrogenase family 3 member B2 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables aldehyde dehydrogenase [NAD(P)+] activity	EXP EXP: Inferred from Experiment	25286108	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

ALDH3B2 Protein Structure

Aldedh

0
100
200
300
385 a.a.

Protein Preferred Names

Protein Names

aldehyde dehydrogenase family 3 member B2

acetaldehyde dehydrogenase 8

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

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-RS00576	ALDH3B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALDH3B2	RGD	RGD:1584166
Macaca mulatta	ALDH3B2	VGNC	VGNC:69790

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