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  • SPAST gene: MedlinePlus Genetics
    The SPAST gene provides instructions for producing a protein called spastin, which is a member of the AAA protein family Learn about this gene and related health conditions
  • Spastin - Wikipedia
    The human gene SPAST codes for the microtubule -severing protein of the same name, commonly known as spastin [5] This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family
  • Mutations in the SPAST gene causing hereditary spastic paraplegia are . . .
    Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene (located on 2p22 3), which encodes for an enzyme called spastin [7, 8] SPG4 is the most common autosomal-dominant form of HSP, accounting for approximately 40% of familial [9] and 10% of sporadic [10] cases
  • SPAST Gene - GeneCards | SPAST Protein | SPAST Antibody
    SPAST (Spastin) is a Protein Coding gene Diseases associated with SPAST include Spastic Paraplegia 4, Autosomal Dominant and Hereditary Spastic Paraplegia Among its related pathways are Cell Cycle, Mitotic and Separation of Sister Chromatids
  • Entry - *604277 - SPASTIN; SPAST - OMIM - (OMIM. ORG)
    Using a positional cloning strategy based on the spastic paraplegia-4 (SPG4; 182601) candidate region on chromosome 2p22-p21, Hazan et al (1999) identified a gene encoding a member of the AAA protein family (see 601681), which they named 'spastin' (SPAST)
  • A Novel SPAST Variant Associated with Isolated Spastic Paraplegia
    Genetic variants in SPAST are the most common cause of hereditary spastic paraplegia (HSP), entitled spastic paraplegia type 4 (SPG4) Inheritance is autosomal dominant, and age of onset can vary from childhood to adulthood
  • SPAST gene - MedlinePlus
    The SPAST gene provides instructions for producing a protein called spastin, which is a member of the AAA protein family This protein family plays a role in many cellular activities, including regulation of cell components and proteins
  • 6683 - Gene ResultSPAST spastin [ (human)]
    SPAST variant with an I344K mutation (I344K-SPAST) was identified in a Korean family with autosomal dominant-type hereditary spastic paraplegias (HSP) The I344K-SPAST mutation prolonged the half-life of the protein in cells by modulating post-translational modifications for proteasomal degradation
  • SPAST spastin [Homo sapiens (human)] - Gene - NCBI
    Gene target information for SPAST - spastin (human) Find diseases associated with this biological target and compounds tested against it in bioassay experiments





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