Identity
HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
CAR,CMAR,PGN,SPG5C
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6687
MIM: 602783
HGNC: 11237
Ensembl: ENSG00000197912
Variants:
dbSNP: 6687
ClinVar: 6687
TCGA: ENSG00000197912
COSMIC: SPG7
RNA/Proteins
Expression (GTEx)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA130620651 | anthracyclines and related substances | Chemical | ClinicalAnnotation | associated | PD | 21900104, 23441093 | |
| PA445062 | Neoplasms | Disease | ClinicalAnnotation | associated | PD | 21900104, 23441093 | |
| PA445425 | Prostatic Neoplasms | Disease | ClinicalAnnotation | associated | PD | 20038957 | |
| PA449383 | docetaxel | Chemical | ClinicalAnnotation | associated | PD | 20038957 | |
| PA451644 | thalidomide | Chemical | ClinicalAnnotation | associated | PD | 20038957 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35637455 | 2022 | A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports. | 0 |
| 35637455 | 2022 | A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports. | 0 |
| 33774748 | 2021 | Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort. | 2 |
| 34500365 | 2021 | Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations. | 3 |
| 33774748 | 2021 | Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort. | 2 |
| 34500365 | 2021 | Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations. | 3 |
| 32002796 | 2020 | Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family. | 0 |
| 32447552 | 2020 | SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia. | 8 |
| 33045469 | 2020 | Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia. | 14 |
| 32002796 | 2020 | Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family. | 0 |
| 32447552 | 2020 | SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia. | 8 |
| 33045469 | 2020 | Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia. | 14 |
| 30098094 | 2019 | Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. | 5 |
| 30747022 | 2019 | High diagnostic yield and novel variants in very late-onset spasticity. | 3 |
| 31044621 | 2019 | Genome-wide association study of white-coat effect in hypertensive patients. | 2 |
Citation
Dessen P
SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42373/spg7-(spg7-matrix-aaa-peptidase-subunit-paraplegin)
