SLC5A7

This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

Full Name

Solute Carrier Family 5 Member 7

Function

Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

Biological Process

Biological Process acetylcholine biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process choline transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process in utero embryonic developmentIEA:Ensembl
Biological Process neuromuscular synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neurotransmitter transportTAS:Reactome
Biological Process synaptic transmission, cholinergicManual Assertion Based On ExperimentIBA:GO_Central
Biological Process transmembrane transportTAS:Reactome

Cellular Location

Membrane
Cell membrane
Synapse
Localized at the neuromuscular junction.

Involvement in disease

Neuronopathy, distal hereditary motor, 7A (HMN7A):
A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN7A is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve.
Myasthenic syndrome, congenital, 20, presynaptic (CMS20):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing.

PTM

Phosphorylated.