gene 2,026 words KG: PNPLA6
Contents

PNPLA6 Gene — Neuropathy Target Esterase (NTE) in Neurodegeneration

🧬 Gene Info
Gene SymbolPNPLA6
Full NamePatatin-like Phospholipase Domain Containing 6 (Neuropathy Target Esterase, NTE)
Chromosome19p13.2
Protein TypeEnzyme
Functionis a critical enzyme for neuronal health and axonal maintenance.
Primary ExpressionNeurons, axons, peripheral nerve, Sertoli cells
Subcellular Localizationthe endoplasmic reticulum and plasma membrane of neurons, with its catalytic domain facing the cytoplasm
Molecular Weight~180 kDa
Amino Acids1640 aa
UniProt IDQ8IY84
NCBI Gene ID10908
Ensembl IDENSG00000118640
OMIM603649
GeneCardsPNPLA6
Human Protein AtlasPNPLA6
Associated DiseasesAtaxia, Cancer, Ms
KG Connections52 knowledge graph edges
DatabasesGeneCardsHPASTRING

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