Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

SLC5A7

contributors: mct - updated : 12-01-2013

HGNC name	solute carrier family 5 (choline transporter), member 7
HGNC id	14025

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DHMN7A , CMS20

Susceptibility

to heart rate variability

Variant & Polymorphism other	heart rate variability is associated with polymorphic variation in SLC5A7

Candidate gene	SLC5A7 or its regulation should be considered as a potential contributor to idiopathic motor neuronopathies
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer drugs which inhibit the interaction between SLC5A7 and NEDD4L might be useful for diseases involving decrease in acetylcholine level such as Alzheimer disease

ANIMAL & CELL MODELS

Slc5a7-knockout mice display early postnatal paralysis, cyanosis, and lethality