gene 519 words KG: TRPC5
Contents

TRPC5

🧬 Gene Info
Gene SymbolTRPC5
ChromosomeXq23
Protein TypeChannel
FunctionTRPC5 is a member of the TRPC (Transient Receptor Potential Canonical) family with unique neuronal expression patterns and functions.
Primary Expressionbrain, particularly in hippocampal and cortical neurons [2](https://pubmed
Ensembl IDENSG00000120336
GeneCardsTRPC5
Human Protein AtlasTRPC5
Neuronal SpecificityHighly expressed in brain, particularly in hippocampal and cortical neurons 2
GatingActivated by GPCR signaling, receptor tyrosine kinases, and mechanical stimuli 3
Synaptic FunctionRegulates dendritic spine morphology, synaptic transmission, and plasticity 4
DevelopmentCritical for neuronal development, axon guidance, and dendrite morphogenesis 5
Intellectual DisabilityLoss-of-function mutations cause X-linked intellectual disability 6
Autism Spectrum DisorderTRPC5 variants identified in patients with ASD 7
EpilepsyDe novo mutations associated with epileptic encephalopathy 8
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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