Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)

Stable Identifier
R-HSA-5619114
Type
Pathway
Species
Homo sapiens
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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, a neurotransmitter 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).

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
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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