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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BSCL2 , SPG17

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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