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FLASH GENE
Symbol GEMIN8 contributors: mct - updated : 11-02-2017
HGNC name gem (nuclear organelle) associated protein 8
HGNC id 26044
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , complex
HOMOLOGY
interspecies homolog to rattus FAM51A1 (69.9pc)
Homologene
FAMILY
CATEGORY chaperone/stress
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus,nucleoplasm
basic FUNCTION
  • involved in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs)
  • GEMIN4 and GEMIN8 orthologues are required for neuromuscular function and survival
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heteromeric subunit of the SMN complex in association with Gemin6-Gemin7 heterodimer
  • integral component of the SMN complex and extend the repertoire of cellular proteins involved in the pathway of snRNP biogenesis
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMN complex and its component GEMIN8 interact directly with protein phosphatase PPP1CC
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    GEMIN8 interaction with PPP1CC is a target for therapeutic intervention in SMA
    ANIMAL & CELL MODELS