Slc5a7 - solute carrier family 5 (choline transporter), member 7

Enables choline binding activity and choline transmembrane transporter activity. Acts upstream of or within several processes, including acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Located in neuronal cell body and plasma membrane. Is expressed in several structures, including central nervous system and diaphragm. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 20 and distal hereditary motor neuronopathy type 7A. Orthologous to human SLC5A7 (solute carrier family 5 member 7). [provided by Alliance of Genome Resources, Apr 2022]