Seipin: A mysterious protein

Research output: Contribution to journalArticle

64 Scopus citations

Abstract

In 2001, a locus for autosomal-recessive congenital generalized lipodystrophy was identified on chromosome 11q13 and mutations in a novel gene named Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) were reported. Earlier this year, heterozygous mutations in the BSCL2 gene, restricted to the N-glycosylation (N-X-S/T) motif, were reported in autosomal-dominant distal hereditary motor neuropathy and Silver syndrome, which are disorders with distinctly different phenotypes from lipodystrophy. BSCL2 encodes seipin, a transmembrane protein that is localized to the endoplasmic reticulum. It is proposed that its homology to midasin, an AAA (ATPases associated with various cellular activities) domain-containing nuclear protein that is involved in RNA transport, might yield some clues as to how mutant forms of seipin cause two clinically distinct syndromes.

Original languageEnglish (US)
Pages (from-to)440-444
Number of pages5
JournalTrends in Molecular Medicine
Volume10
Issue number9
DOIs
StatePublished - Sep 2004

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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