Identity
HGNC
LOCATION
2p22.3
LOCUSID
ALIAS
ADPSP,FSP2,SPG4
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: 6683
MIM: 604277
HGNC: 11233
Ensembl: ENSG00000021574
Variants:
dbSNP: 6683
ClinVar: 6683
TCGA: ENSG00000021574
COSMIC: SPAST
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38554708 | 2024 | Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery. | 0 |
| 38732227 | 2024 | SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. | 0 |
| 38554708 | 2024 | Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery. | 0 |
| 38732227 | 2024 | SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. | 0 |
| 36537231 | 2023 | Copy number variations in SPAST and ATL1 are rare among Brazilians. | 1 |
| 36632786 | 2023 | Phosphorylation mutation impairs the promoting effect of spastin on neurite outgrowth without affecting its microtubule severing ability. | 0 |
| 36766769 | 2023 | Spastin Promotes the Migration and Invasion Capability of T98G Glioblastoma Cells by Interacting with Pin1 through Its Microtubule-Binding Domain. | 0 |
| 36825575 | 2023 | A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report. | 1 |
| 37172824 | 2023 | Spastin is required for human immunodeficiency virus-1 efficient replication through cooperation with the endosomal sorting complex required for transport (ESCRT) protein. | 0 |
| 37473796 | 2023 | Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia. | 0 |
| 38066582 | 2023 | A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics. | 0 |
| 36537231 | 2023 | Copy number variations in SPAST and ATL1 are rare among Brazilians. | 1 |
| 36632786 | 2023 | Phosphorylation mutation impairs the promoting effect of spastin on neurite outgrowth without affecting its microtubule severing ability. | 0 |
| 36766769 | 2023 | Spastin Promotes the Migration and Invasion Capability of T98G Glioblastoma Cells by Interacting with Pin1 through Its Microtubule-Binding Domain. | 0 |
| 36825575 | 2023 | A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report. | 1 |
Citation
Dessen P
SPAST (spastin)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56127/gene-explorer/
