Gene: SPG7

Alternate names for this Gene: CAR|CMAR|PGN|SPG5C

Gene Summary: This gene 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. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: SPG7 matrix AAA peptidase subunit, paraplegin

Type of Gene: protein-coding

rs121918358 in SPG7 gene and Ataxia PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs141659620 in SPG7 gene and Cerebellar Ataxia PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918358 in SPG7 gene and Dysarthria PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs382745 in SPG7 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs369227537 in SPG7 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs149474131 in SPG7 gene and Movement Disorders PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

PMID 27084228 2016 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

PMID 28608987 2017 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

PMID 26260707 2015 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

PMID 27260292 2016 A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 24731568 2014 Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.

rs121918358 in SPG7 gene and Muscle Spasticity PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918358 in SPG7 gene and Nystagmus PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918357 in SPG7 gene and SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE PMID 9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

PMID 20186691 2010 Functional evaluation of paraplegin mutations by a yeast complementation assay.

PMID 16534102 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 17646629 2007 A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

PMID 18200586 2008 A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID 24727571 2014 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

PMID 23733235 2013 Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

PMID 23269439 2013 The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

PMID 23065789 2012 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

PMID 18799786 2008 Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

PMID 25133958 2014 Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

PMID 25034272 2014 Early-onset optic neuropathy as initial clinical presentation in SPG7.

PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

PMID 27790088 2016 Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

PMID 26756429 2016 A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

PMID 26506339 2015 Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

PMID 25681447 2015 SPG7 mutations are a common cause of undiagnosed ataxia.

PMID 14985266 2004 A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

PMID 27123479 2016 Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

PMID 18563470 2008 Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

PMID 11222789 2001 Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.

PMID 24466038 2014 Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

PMID 27165006 2016 Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

rs34753377 in SPG7 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs562890289 in SPG7 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

PMID 29057857 2017 Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.

PMID 23733235 2013 Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

PMID 16534102 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

PMID 18799786 2008 Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

PMID 23065789 2012 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID 29026558 2017 Expanded phenotype in a patient with spastic paraplegia 7.

PMID 27957547 2017 Clinical and genetic study of hereditary spastic paraplegia in Canada.

PMID 20186691 2010 Functional evaluation of paraplegin mutations by a yeast complementation assay.

PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

PMID 23269439 2013 The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

PMID 26756429 2016 A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

PMID 18563470 2008 Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

PMID 25681447 2015 SPG7 mutations are a common cause of undiagnosed ataxia.

PMID 9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.