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Protein Coding Gene : Aldh5a1 aldhehyde dehydrogenase family 5, subfamily A1

Primary Identifier  MGI:2441982 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  214579
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable several functions, including NAD binding activity; identical protein binding activity; and succinate-semialdehyde dehydrogenase (NAD+) activity. Acts upstream of or within carboxylic acid metabolic process and post-embryonic development. Located in mitochondrion. Used to study epilepsy. Human ortholog(s) of this gene implicated in succinic semialdehyde dehydrogenase deficiency. Orthologous to human ALDH5A1 (aldehyde dehydrogenase 5 family member A1).
PHENOTYPE: Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death. [provided by MGI curators]
  • synonyms:
  • Aldh5a1,
  • OTTMUSG00000000613,
  • MGI:3701802,
  • D630032B01Rik,
  • MGI:1917959,
  • RIKEN cDNA D630032B01 gene,
  • SSADH,
  • 6330403E24Rik,
  • RIKEN cDNA 6330403E24 gene,
  • aldhehyde dehydrogenase family 5, subfamily A1,
  • predicted gene, OTTMUSG00000000613

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

5 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For