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  2. ALDH3B2 - aldehyde dehydrogenase 3 family member B2 Gene

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

Aldedh: Aldehyde dehydrogenase family (18 - 345)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
Protein Preferred Names Protein Names

aldehyde dehydrogenase family 3 member B2

acetaldehyde dehydrogenase 8

ALDH3B2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ALDH3B2 P48448 ALDH3B1 Homo sapiens P43353
Anti Tag CoIP
33961781
Intra
ALDH3B2 P48448 ALDH3B1 Homo sapiens P43353
Anti Tag CoIP
28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Orthologs Information

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