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FLASH GENE

Symbol

SYNE1

contributors: mct/npt - updated : 23-12-2016

HGNC name	spectrin repeat containing, nuclear envelope 1
HGNC id	17089

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR8 , AMCN3 , EMD4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Emery-Dreyfuss muscular dystrophy caused, in part, by uncoupling of the nucleoskeleton and cytoskeleton because of perturbed nesprin/emerin/lamin interactions)

Susceptibility

Variant & Polymorphism

Candidate gene	for Emery-Dreifuss muscular dystrophy (Zhang 2010)
Marker
Therapy target

ANIMAL & CELL MODELS

	mice with deletion of the C-terminus of nesprin-1 (homozygous for this mutation) exhibit lethality with approximately half dying at or near birth from respiratory failure; surviving mice display hindlimb weakness and an abnormal gait (Puckelwartz 2009)
	young Nesprin 1–/– mice of both sexes experienced growth retardation, increased variability in body weight and decreased exercise tolerance compared with wild-type animals (Zhang 2010)