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ALDH5A1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ALDH5A1, ENTREZ:7915, HGNC:408, MIM:610045, NM_001080, NM_001368954, NM_170740, NP_001071, NP_001355883, NP_733936, SSADH, SSDH, aldehyde dehydrogenase 5 family member A1
Omim:OMIM:610045
Id:ENSG00000112294
Hgnc:HGNC:408
Entrez:7915
Ensembl:ENSG00000112294
Description:aldehyde dehydrogenase 5 family member A1
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ALDH5A1's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with ALDH5A1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ALDH5A1.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for ALDH5A1.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with ALDH5A1.

Results found

Linked to

 

Label

Description

 

Gene Set

T60-Adrenal Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

Gene Set

GSE89154 proscillaridin 1 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE171837 bortezomib 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120612 etoposide leukocyte 7 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE182680 GSE182683 dexamethasone 10 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE89154 1 V 3 PROSCILLARIDIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Phenotype

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

  • Gene Set

    T60-Adrenal Consensus

    Gene Set (Entity type)

    A Gene Set from MoTrPAC

  • Gene Set

    GSE89154 proscillaridin 1 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE171837 bortezomib 0 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120612 etoposide leukocyte 7 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE182680 GSE182683 dexamethasone 10 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE89154 1 V 3 PROSCILLARIDIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

    Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

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    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.