FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: myopathy with extrapyramidal signs
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General Information
Name
myopathy with extrapyramidal signs
FlyBase ID
FBhh0000844
Disease Ontology Term
Parent Disease
OMIM
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS
Overview

This report describes myopathy with extrapyramidal signs (MPXPS); MPXPS exhibits autosomal recessive inheritance. The human gene implicated in this disease is mitochondrial calcium uptake protein 1 (MICU1), which encodes a key regulator of mitochondrial calcium uniporter complex, acting as a concentration-dependent activator or inhibitor of mitochondrial calcium uptake. See the report for neuromuscular disease, MICU1-related (FBhh0000845) for information on experimental results using Drosophila models of this and related diseases.

[updated Jul. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: myopathy with extrapyramidal signs
OMIM report

[MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS](https://omim.org/entry/615673)

Human gene(s) implicated

[MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 1; MICU1](https://omim.org/entry/605084)

Symptoms and phenotype

Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs, including chorea, tremor, dystonic posturing and orofacial dyskinesia, that may become disabling (summary by Logan et al., 2014; pubmed:24336167). [from MIM:615673; 2018.07.17]

(OMIM, 2013-)
Genetics

Myopathy with extrapyramidal signs (MPXPS) is caused by homozygous mutation in the MICU1 gene. [from MIM:615673; 2018.07.17]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

Mitochondrial calcium uptake protein 1 (MICU1) encodes a key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake: acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening; enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm. [PDB, http://www.rcsb.org/pdb/protein/Q9BPX6 2018.07.17]

(FlyBase Curators, 2013-)

Mitochondrial calcium uptake protein 1 (MICU1) encodes a subunit of the mitochondrial uniporter, a multisubunit calcium channel of the mitochondrial inner membrane; MICU1 regulates channel opening in response to intracellular calcium content and calcium transients (summary by Sancak et al., 2013; pubmed:24231807). [from MIM:605084; 2018.07.17]

(OMIM, 2013-)
External links
Disease synonyms
MPXPS
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MICU1; mitochondrial calcium uptake 1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\MICU1
    (DIOPT, 2013-)
    Dmel\CG4704
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to many: 1 human to 2 Drosophila.

    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
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        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (3)