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FLASH GENE
Symbol BSCL2 contributors: mct/npt - updated : 09-03-2009
HGNC name Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
HGNC id 15832
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • at least two hydrophobic stretches, indicative of a transmembrane protein, no similarity with other known proteins or consensus motif
    • HOMOLOGY
    interspecies homolog to murine guanine-nucleotide binding protein,gamma 3
    homolog to Drosophila cg9904 protein
    Homologene
    FAMILY
  • seipin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • transmembrane protein that resides in the endoplasmic reticulum and concentrates at junctions between the ER and cytosolic lipid droplets
    • basic FUNCTION
  • may play a role in the differentiation of mesenchymal cells into preadipocyte
  • involved in droplet assembly and/or maintenance
  • strongly induced during adipocyte differentiation, and the induction of BSCL2 expression was essential for adipogenesis
  • essential, cell-autonomous regulator of adipogenesis
  • required for normal lipid droplet morphology
  • playspotentially at least a structural role in organizing droplets or in communication between droplets and ER
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text regulation of body fat distribution and insulin resistance
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSCL2 , SPG17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in distal hereditary motor neuropathy type V or CMT2D (defect of glycosylation of seipin resulting in aggregates formation and in neurodegeneration)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS