FB2024_04 , released June 25, 2024
Human Disease Model Report: seizure-sensitive (postulated), SLC24A-related
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General Information
Name
seizure-sensitive (postulated), SLC24A-related
FlyBase ID
FBhh0001133
Disease Ontology Term
Parent Disease
OMIM
Overview

Mutations in a number of Drosophila genes produce phenotypes of seizure sensitivity, including zyd. Dmel\zyd encodes a transmembrane transporter that acts as a potassium-dependent sodium/calcium exchanger and is expressed in CNS glial cells. There are multiple orthologous genes in human, including SLC24A3, SLC24A4, SLC24A5 and SLC24A5. To date, none of the orthologous SLC24A human genes has been reported by OMIM as implicated in a seizure- or epilepsy-related disorder.

None of the orthologous SLC24A human genes has been introduced into flies.

Temperature-sensitive loss-of-function mutations in Dmel\zyd result in seizure-sensitivity in adults; at the restrictive temperature, rapid, unpatterned firing is observed at the larval neuromuscular junction. RNAi-effected loss-of-function of Dmel\zyd in glia, but not neurons, results in the seizure-sensitive phenotype. The role of zyd appears to be acute, rather than developmental.

[updated Nov. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: seizure-sensitive (postulated), SLC24A-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

Genes of solute carrier family 24 encode trans-plasma-membrane transporters that act as potassium-dependent sodium/calcium exchangers; they are an important component of intracellular calcium homeostasis and electrical conduction.

[Gene Cards, SLC24A3; 2019.11.04]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many: multiple orthologous genes in both species.

    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many: multiple orthologous genes in both species.

    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many: multiple orthologous genes in both species.

    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many: multiple orthologous genes in both species.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      zydeco (zyd) encodes a potassium-dependent sodium/calcium exchanger found in cortex glia. It is thought to serve as a key calcium export pathway to control calcium oscillations that occur in membrane microdomains of the glial cell. [Date last reviewed: 2019-03-21]
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      Low- to moderate-scoring ortholog of human SLC24A3, SLC24A4, SLC24A5 and SLC24A5 (multiple orthologous genes in both species). Dmel\zyd shares 38-39% identity and 55-56% similarity with SLC24A3 and SLC24A3, the most closely related human orthologs.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
        Models Based on Experimental Evidence ( 2 )
        Allele
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Interaction
        References
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        ethyl methanesulfonate
        References (6)