Identity
HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
ALS5,CMT2X,KIAA1840
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: 80208
MIM: 610844
HGNC: 11226
Ensembl: ENSG00000104133
Variants:
dbSNP: 80208
ClinVar: 80208
TCGA: ENSG00000104133
COSMIC: SPG11
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35074613 | 2022 | Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study. | 0 |
| 35614164 | 2022 | "Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers. | 1 |
| 36432490 | 2022 | Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. | 3 |
| 35074613 | 2022 | Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study. | 0 |
| 35614164 | 2022 | "Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers. | 1 |
| 36432490 | 2022 | Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. | 3 |
| 33581793 | 2021 | Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients. | 5 |
| 34031922 | 2021 | Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11. | 6 |
| 34140036 | 2021 | Circ-SPG11 knockdown hampers IL-1β-induced osteoarthritis progression via targeting miR-337-3p/ADAMTS5. | 4 |
| 33581793 | 2021 | Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients. | 5 |
| 34031922 | 2021 | Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11. | 6 |
| 34140036 | 2021 | Circ-SPG11 knockdown hampers IL-1β-induced osteoarthritis progression via targeting miR-337-3p/ADAMTS5. | 4 |
| 31900114 | 2020 | Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11. | 2 |
| 32007496 | 2020 | Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. | 5 |
| 32007754 | 2020 | A novel variant in the spatacsin gene causing SPG11 in a Malian family. | 3 |
Citation
Dessen P
SPG11 (SPG11 vesicle trafficking associated, spatacsin)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54663/spg11-(spg11-vesicle-trafficking-associated-spatacsin)
