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  • Molecular assay reagents intended to identify mutations in the Berardinelli-Seip congenital lipodystrophy 2 (sepin) (BSCL2) gene, located at chromosome 11q13, which encodes for the protein sepin, found in the endoplasmic reticulum, whose function is not well known. Mutations at this locus have been identified in most patients with early-onset Berardinelli-Seip congenital lipodystrophy type 2, Charcot-Marie-Tooth syndrome type 2, distal hereditary motor neuropathy type 5, and Silver\'s syndrome (also known as spastic paraplegia 17).
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