SPAST Chromosome 2
Spastin
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What This Gene Does
This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein 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. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
2p22.3
Ensembl
ENSG00000021574
Associated Conditions (21)
Hereditary spastic paraplegia 4
Cerebral palsy
Hereditary spastic paraplegia
SPAST-related disorder
Inborn genetic diseases
Spastic diplegia
Spastic paraplegia
Spastic ataxia
Spastic paraparesis
Spasticity
Hereditary spastic paraplegia 2
Tics
SPAST-related spastic paraplegia
Melanoma
Abnormal central motor function
Fatigue
Abnormal myelination
Seizure
Tip-toe gait
Pes valgus
+1 more conditions
Key Variants
RS121908515
Benign/Likely benign; other; risk factor
Hereditary spastic paraplegia 4, Cerebral palsy, Hereditary spastic paraplegia
Health Risk
RS1057519108
Conflicting classifications of pathogenicity
Health Risk
RS1060499939
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
Health Risk
RS1060502228
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, SPAST-related disorder, Hereditary spastic paraplegia 4
Health Risk
RS1060502231
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
Health Risk
RS1131691972
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
Health Risk
RS1162493574
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 4, Inborn genetic diseases
Health Risk
RS121908517
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia, Hereditary spastic paraplegia 4
Health Risk
RS138146982
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
Health Risk
RS140094231
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
Health Risk
RS1403480959
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
Health Risk
RS142053576
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 4, Inborn genetic diseases, Spastic diplegia
Health Risk
All Variants (499)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148753955 | Health Risk | Pathogenic | — |
| RS2148753972 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148754018 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148754032 | Health Risk | Pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2148754101 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148754345 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148754355 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148754376 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148758232 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148758241 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148758252 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759354 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759370 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759388 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759400 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759407 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759412 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759447 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148759473 | Health Risk | Pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2148760797 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148760843 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148760886 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148762771 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148762787 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148762802 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148762813 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148769284 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148769324 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2148769396 | Health Risk | Pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2465679369 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465679807 | Health Risk | Pathogenic | — |
| RS2465680440 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465681048 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465681362 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465681472 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465681573 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465682785 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465683100 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465763188 | Health Risk | Pathogenic | — |
| RS2465769484 | Health Risk | Pathogenic | — |
| RS2465835167 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835245 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835379 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835392 | Health Risk | Pathogenic | — |
| RS2465835399 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835571 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835665 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835765 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838551 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838597 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |