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General Information
Name
spastic paraplegia 7
FlyBase ID
FBhh0000808
Disease Ontology Term
Parent Disease
Overview

This report describes spastic paraplegia 7 (SPG7), which is a subtype of spastic paraplegia; there are both autosomal recessive and autosomal dominant forms of this disease. The human gene implicated in this disease, which is also called SPG7, encodes a component of the m-AAA protease, an ATP-dependent proteolytic complex of the mitochondrial inner membrane that degrades misfolded proteins and regulates ribosome assembly. There is a single high-scoring ortholog in Drosophila, CG2658 for which RNAi-targeting constructs, alleles caused by insertional mutagenesis, and an amorphic allele created by targeted recombination have been generated.

The human SPG7 gene has not been introduced into flies.

Animals homozygous for an amorphic allele of CG2658 exhibit adult phenotypes that recapitulate the human disease, including shortened lifespan, progressive locomotor defects, sensitivity to chemical and environmental stress, and muscular and neuronal degeneration; multiple mitochondrial defects are observed.

[updated May 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spastic paraplegia
Symptoms and phenotype

The hereditary spastic paraplegias (SPG, HSP) are a large group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'). [from OMIM:182600; 15.06.29]

Specific Disease Summary: spastic paraplegia 7
OMIM report

[SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7](https://omim.org/entry/607259)

Human gene(s) implicated

[SPG7 MATRIX AAA PEPTIDASE SUBUNIT, PARAPLEGIN; SPG7](https://omim.org/entry/602783)

Symptoms and phenotype

SPG7 shows phenotypic variability between families; some cases are complicated with additional neurologic features (Warnecke et al., 2007; pubmed:17646629). [from OMIM:607259; 2018.05.14]

Genetics

Spastic paraplegia-7 is caused by homozygous or compound heterozygous mutation in the paraplegin gene (SPG7). Some patients with the disorder carry heterozygous SPG7 mutations. [from OMIM:607259; 2018.05.14]

Cellular phenotype and pathology
Molecular information

SPG7 encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. [Gene Cards, SPG7; 2018.05.14]

The SPG7 gene encodes paraplegin, a component of the m-AAA protease; the m-AAA protease is an ATP-dependent proteolytic complex of the mitochondrial inner membrane that degrades misfolded proteins and regulates ribosome assembly (Koppen et al., 2007; pubmed:17101804). [from OMIM:602783; 2018.05.14]

External links
Disease synonyms
hereditary spastic paraplegia 7
spastic paraplegia 7, autosomal recessive
spastic paraplegia type 7
SPG7
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila; lower-scoring orthologs exist in both species.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human SPG7 (1 Drosophila to 1 human); lower-scoring orthologs exist in both species. Dmel\CG2658 shares 50% identity and 66% similarity with the human gene.

      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 (1 groups)
        protein-protein
        Interacting group
        Assay
        References
        anti bait coimmunoprecipitation, western blot
        Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
        Models Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 0 )
        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
        Selected mammalian 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
        amorphic allele - molecular evidence
        gene targeting by homologous recombination
        References (4)