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FB2026_01
,
released March 12, 2026
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]
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 MIM:182600; 15.06.29]
[SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG7](https://omim.org/entry/607259)
[SPG7 MATRIX AAA PEPTIDASE SUBUNIT, PARAPLEGIN; SPG7](https://omim.org/entry/602783)
SPG7 shows phenotypic variability between families; some cases are complicated with additional neurologic features (Warnecke et al., 2007; pubmed:17646629). [from MIM:607259; 2018.05.14]
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 MIM:607259; 2018.05.14]
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 MIM:602783; 2018.05.14]
One to one: 1 human to 1 Drosophila; lower-scoring orthologs exist in both species.
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.