Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, BSCL2

Reagents, Molecular Assay, Gene Anomaly, Mutation, BSCL2

Definition : 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).

Entry Terms : "Diabetes Mellitus Gene Mutation Detection Reagents" , "Seip Disease Gene Mutation Detection Reagents" , "Lipodystrophy Gene Mutation Detection Reagents" , "Congenital Lipodystrophy Gene Mutation Detection Reagents" , "Lipodystrophy Type 2 (BSCL2) Gene Mutation Detection Reagents" , "Bernardinelli-Seip Congenital Gene Mutation Detection Reagents" , "BSCL2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Polygenic, Diabetes" , "Diabetes Diagnostic Reagents"

UMDC code : 24322

   

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