gene 1,755 words KG: SLC17A8
Contents

SLC17A8 Gene

🧬 Gene Info
Gene SymbolSLC17A8
FunctionSLC17A8 encodes vesicular glutamate transporter 3 (VGLUT3), responsible for packaging glutamate into synaptic vesicles in neurons.
Primary Expressionglutamatergic neurons, VGLUT3 has a unique expression pattern in monoaminergic and cholinergic neurons, where it packages glutamate as a cotransmitter
Ensembl IDENSG00000179520
GeneCardsSLC17A8
Human Protein AtlasSLC17A8
Preserved Outer Hair Cell FunctionUnlike typical sensorineural hearing loss, auditory neuropathy shows normal otoacoustic emissions (OAEs) and preserved cochlear microphonic responses, indicating intact outer hair cell function.
Abnormal Neural ResponsesAbsent or abnormal auditory brainstem responses (ABRs) indicate disrupted neural transmission from the inner hair cell-synapse to the auditory brainstem.
Speech Perception DeficitsDespite preserved hair cell function, patients with auditory neuropathy have severe difficulties with speech perception, particularly in noisy environments.
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph