Details for Gene SPAST

GENE NAME SPAST
CHROMOSOME 2
ENSEMBL ID ENSG00000021574
ENTREZ ID 6683
UNIPROT ACCESSION NUMBER Q9UBP0
GO MOLECULAR FUNCTION alpha-tubulin binding; protein binding; ATP hydrolysis activity; isomerase activity; beta-tubulin binding; ATP binding; microtubule-severing ATPase activity; microtubule binding; protein-containing complex binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-69278; R-HSA-68886; R-HSA-68882; R-HSA-2995410; R-HSA-1640170; R-HSA-2555396; R-HSA-9668328
2 combinations linked to SPAST OLI1149; OLI1148
2 variants linked to SPAST Copy Number Variant deletion on chromosome 2 of the exon5 7 in the gene SPAST; SPAST:c.1212_1216del, p.Asn405LysfsTer36
1 disease linked to SPAST Hereditary spastic paraplegia

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