spastin
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Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+1 more panels — install the extension to see the full list inline on any page.
Autosomal dominant spastic paraplegia type 4
hereditary spastic paraplegia 4
hereditary spastic paraplegia
Spastic paraplegia
Rare hereditary ataxia
hereditary disease
hereditary ataxia
Spastic paraparesis
Tip-toe gait
Spasticity
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Spastin
ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated (PubMed:11809724, PubMed:15716377, PubMed:16219033, PubMed:17389232, PubMed:20530212, PubMed:22637577, PubMed:26875866). Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). Severing activity is not dependent on tubulin acetylation or detyrosination (PubMed:26875866). Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. It is critical for the biogenesis and maintenance of complex microtubule arrays in axons, spindles and cilia. SPAST is involved in abscission step of cytokinesis and nuclear envelope reassembly during anaphase in cooperation with the ESCRT-III complex (PubMed:19000169, PubMed:21310966, PubMed:26040712). Recruited at the midbody, probably by IST1, and participates in membrane fission during abscission together with the ESCRT-III complex (PubMed:21310966). Recruited to the nuclear membrane by IST1 and mediates microtubule severing, promoting nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and endosome recycling (PubMed:23897888). Recruited by IST1 to endosomes and regulates early endosomal tubulation and recycling by mediating microtubule severing (PubMed:23897888). Probably plays a role in axon growth and the formation of axonal branches (PubMed:15716377)
Curated MONDO disease pages that list SPAST among their top associated genes.
SPAST · Q9UBP0
Mean pLDDT
76.0/ 100
Confident
616 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
