ALDH3B2 - aldehyde dehydrogenase 3 family member B2 Gene

Also Known as ALDH8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 222

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
Molecular Function GO Annotation Evidence Références 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 Références
Intra
ALDH3B2 P48448 ALDH3B1 Homo sapiens P43353 33961781
Intra
ALDH3B2 P48448 ALDH3B1 Homo sapiens P43353 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
Others ALDH3B2 NCBI