gene 1,063 words KG: SEPTIN5
Contents

SEPTIN5 — Septin 5

🧬 Gene Info
Gene SymbolSEPTIN5
Full NameSeptin 5
Chromosome22q11.21
Functionencodes a member of the septin family of GTP-binding proteins essential for cytoskeleton organization, cell division, and membrane dynamics.
Primary Expressionthe nervous system and is particularly important for synaptic vesicle organization, neurotransmitter release, and neuronal survival
Amino Acids367 aa
UniProt IDQ9NSC5
NCBI Gene ID54148
Ensembl IDENSG00000100338
GeneCardsSEPTIN5
Human Protein AtlasSEPTIN5
Septin unique element (SUE)a conserved 30-amino acid insert unique to septins
Cerebral cortexLayer V pyramidal neurons (corticospinal motor neurons)
HippocampusCA3 pyramidal cells and dentate gyrus granule cells
CerebellumPurkinje cells (major inhibitory output neurons)
Associated DiseasesParkinson's Disease, Alzheimer's Disease, Lewy Body Dementia
DatabasesGeneCardsHPASTRING

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