XB-GENEPAGE-961534
???displayGene.symbol???:
slc5a7
???displayGene.name???:
solute carrier family 5 (sodium/choline cotransporter), member 7
???displayGene.synonyms???
cht1
(
Nomenclature history )
???displayGene.geneFunction???
Choline transporter
AI Protein Function
:
slc5a7 encodes a plasma‑membrane sodium‑dependent choline symporter that mediates high‑affinity choline uptake for acetylcholine synthesis; the protein belongs to the solute carrier family 5 and is loc...[+]
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Diseases:
Disease Ontology:
congenital myasthenic syndrome 20
MIM:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7; HMND7
External Links:
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