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FLASH GENE

Symbol

NIPA1

contributors: npt/mct/shn - updated : 21-10-2013

HGNC name	non-imprinted in Prader-Willi/Angelman syndrome 1
HGNC id	17043

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in congenital heart disease constitutional       loss of function mutations or NIPA1 polyalanine expansions may result in defects in synapse and axon development

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

transgenic rats expressing a human NIPA1/SPG6 mutation in neurons show marked early onset behavioral and electrophysiologic abnormalities, accumulation of tubulovesicular organelles with endosomal features that start at axonal and dendritic terminals, followed by multifocal vacuolar degeneration in both the central nervous system and peripheral nerves