Version: 8.0.0
Date: Tue Jan 28 2025
Acbd5
Mus musculusMGI:1921409
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Acbd5

Species
Mus musculus
Symbol
Acbd5
Name
acyl-Coenzyme A binding domain containing 5
Synonyms
  • 1300014E15Rik
  • RIKEN cDNA 1300014E15 gene
Biotype
protein coding gene
Automated Description
Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process and pexophagy. Predicted to be located in nucleoplasm. Predicted to be active in peroxisome. Is expressed in several structures, including nervous system and sensory organ. Used to study peroxisomal disease. Human ortholog(s) of this gene implicated in retinal dystrophy with leukodystrophy. Orthologous to human ACBD5 (acyl-CoA binding domain containing 5).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit alternations in cellular lipid homeostasis in the cerebellum and liver with increased very long-chain fatty acid levels, progressive cerebellar degeneration, peroxisome abnormalities, ataxia, and develop a peroxisome disorder. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23310
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
          Source
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            22.960M22.965M22.970M22.975M22.980M22.985M22.990M22.995M23.000M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Acbd5 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Acbd5 role
              Acbd5 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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