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FLASH GENE
Symbol SPG21 contributors: mct/shn - updated : 03-08-2010
HGNC name spastic paraplegia 21 (autosomal recessive, Mast syndrome)
HGNC id 20373
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to Spg21, Mus musculus
ortholog to SPG21, Pan troglodytes
ortholog to Spg21, Rattus norvegicus
ortholog to spg21, Danio rerio
Homologene
FAMILY
  • AB hydrolase superfamily
    • CATEGORY regulatory , receptor membrane
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text
  • localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments (Hanna 2008)
  • localize to the endosomal membrane traffic compartment, suggesting that the long axons of the corticospinal tract may be especially vulnerable to endosomal dysfunction (Tsang 2009)
    • basic FUNCTION
  • ligand of CD4 (Zeitlmann 2001)
  • aldehyde dehydrogenase ALDH16A1 (Hanna 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to CD4
  • interacting with the aldehyde dehydrogenase ALDH16A1 (Hanna 2008)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • SPG21-/- knockout mice are normal at birth, within several months they develop gradually progressive hind limb dysfunction and display alterations in axon branching in cultured cerebral cortical neurons (Soderblom et al, 2010)