gene 1,745 words KG: POMT2 2026-03-27
section:geneskind:genetopic:alzheimerstopic:parkinsons
Contents

POMT2

🧬 Gene Info
Gene SymbolPOMT2
AliasesProtein O-Mannosyltransferase 2
Chromosome14q24.3
Protein TypeTransferase
Functionis an endoplasmic reticulum-resident glycosyltransferase that catalyzes the critical first step in the O-mannosylation of proteins.
Molecular Weight85 kDa
Amino Acids650 aa
GeneCardsPOMT2
Human Protein AtlasPOMT2
α-DystroglycanECM receptor
Contactin-1Neural adhesion
Neuroglycan-CNeural development
Receptor-type protein tyrosine phosphatasesCell signaling
SystemManifestation
MuscleSevere hypotonia, weakness
Associated DiseasesAlzheimer's disease, Parkinson's disease
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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