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Alternative Name
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BSCL2 (BSCL2 Antibody Abstract)
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Background
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This gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Synonyms: Seipin,BSCL2,
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Molecular Weight
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44392 DA
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Gene ID
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26580
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NCBI Accession
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NP_001116427, NP_116056, NP_001124174
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UniProt
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Q96G97
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Research Area
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Protein Modifications, Cell Structure, Neurology
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