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FLASH GENE
Symbol BSCL2 contributors: mct/npt - updated : 09-03-2009
HGNC name Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
HGNC id 15832
ASSOCIATED DISORDERS
corresponding disease(s) BSCL2 , SPG17
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
in distal hereditary motor neuropathy type V or CMT2D (defect of glycosylation of seipin resulting in aggregates formation and in neurodegeneration)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS