FB2026_03 , released September 17, 2026
Human Disease Model Report: neuropathy, ataxia, and retinitis pigmentosa
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General Information
Name
neuropathy, ataxia, and retinitis pigmentosa
FlyBase ID
FBhh0000386
Disease Ontology Term
Parent Disease
OMIM
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
Overview

This report describes neuropathy, ataxia, and retinitis pigmentosa (NARP syndrome), one of several diseases associated with the human mitochondrially-encoded gene MT-ATP6. See the human disease model report for mitochondrial complex V disorders, MT-ATP6-related (FBhh0000376) for information on experimental results using Drosophila models of this and related diseases. See MIM:516060 for variants of MT-ATP6 associated with NARP syndrome.

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: neuropathy, ataxia, and retinitis pigmentosa
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Originally described as a variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy, in a pedigree pattern consistent with maternal transmission. [from MIM:551500; 2016.08.26]

(OMIM, 2013-)
Genetics

NARP syndrome is caused by mutation in the gene encoding subunit 6 of mitochondrial H(+)-ATPase (MT-ATP6). [from MIM:551500; 2016.08.26]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
NARP syndrome
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MT-ATP6; mitochondrially encoded ATP synthase membrane subunit 6
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mt:ATPase6
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila; the additional orthologous human gene is MT-ATP8.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        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
        References (4)