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FLASH GENE

Symbol

NBEA

contributors: mct - updated : 18-10-2017

HGNC name	neurobeachin
HGNC id	7648

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   expression are frequently disrupted in multiple myeloma

Susceptibility

Variant & Polymorphism

Candidate gene	for AUTS3
Marker
Therapy target

ANIMAL & CELL MODELS

	deletion of Nbea leads to reduced numbers of spinous synapses in cultured neurons from complete knockouts and in cortical tissue from heterozygous mice, accompanied by altered miniature postsynaptic currents
	Nbea-null mice have severe defects in neuromuscular synaptic transmission resulting in lethal paralysis of the newborns