Seipin: from human disease to molecular mechanism.
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ABSTRACT:
SUBMITTER: Cartwright BR
PROVIDER: S-EPMC3351812 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Publications
Seipin: from human disease to molecular mechanism.
Cartwright Bethany R BR Goodman Joel M JM
Journal of lipid research 20120402 6
The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations in BSCL2/seipin. Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum that concentrates at junctions with cytoplasmic lipid droplets (LDs). While null mutations in seipin are responsible for lipodystrophy, dominant mutations cause peripheral neuropathy and other nervous system pathologies. We first review the clinical aspects of CGL and the discovery of the responsible genetic ...[more]
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