Defective SLC5A7 does not cotransport Cho, Cl-, Na+ from extracellular region to cytosol

Stable Identifier
R-HSA-5658483
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The human SLC5A7 gene encodes a sodium- and chloride-dependent, high affinity choline transporter (CHT) transports choline (Cho) from the extracellular space into neuronal cells. Cho uptake is the rate-limiting step in acetylcholine synthesis, aneurotransmitter released at the neuromuscular junction (NMJ). Defects in SLC5A7 can cause distal hereditary motor neuronopathy 7A (HMN7A; MIM:158580). Distal hereditary motor neuronopathies are a 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 clinical picture consists of a progressive distal muscle wasting and weakness in the legs without clinical sensory loss (Barwick et al. 2012). The c.1497delG change in the nucleotide sequence of SLC5A7 is predicted to result in a translational frameshift p.Lys499Asnfs*13 which can cause HMN7A (Barwick et al. 2012).

Literature References
PubMed ID Title Journal Year
23141292 Defective presynaptic choline transport underlies hereditary motor neuropathy

Barwick, KE, Wright, J, Al-Turki, S, McEntagart, MM, Nair, A, Chioza, B, Al-Memar, A, Modarres, H, Reilly, MM, Dick, KJ, Ruggiero, AM, Blakely, RD, Hurles, ME, Crosby, AH

Am. J. Hum. Genet. 2012
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
choline transmembrane transporter activity of SLC5A7 K499Nfs*13 [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
motor peripheral neuropathy 2477 HSMN, Hereditary motor and sensory neuropathy [Ambiguous], Neuropathic muscular atrophy, Hereditary motor and sensory neuropathy, HSMN, Neuropathic muscular atrophy, HSMN - Hereditary sensory and motor neuropathy, neuropathic muscular atrophy, Hereditary motor and sensory neuropathy
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