gene 711 words KG: GJA1
Contents

GJA1

🧬 Gene Info
Gene SymbolGJA1
Full NameGap Junction Protein Alpha 1
Chromosome6q22.31
Protein FamilyConnexin family (21 members in humans)
Protein TypeChannel
Target ClassIon Channel
FunctionConnexin-43 forms gap junction channels enabling direct cell-to-cell transfer of ions (Ca²+, K+), small metabolites (ATP, glucose, glutamate), and signaling molecules.
Mechanism of ActionSmall molecule modulator of gap junction channel activity
DruggabilityLow (0.36)
Clinical StagePhase II
Molecular Weight43 kDa
PathwaysAutophagy, Blood-brain barrier function, Nf-Κb, Oxidative Stress, Proteasome
UniProt IDP17302
NCBI Gene ID2697
Ensembl IDENSG00000152661
OMIM121014
GeneCardsGJA1
Human Protein AtlasGJA1
Associated DiseasesAlzheimer, Alzheimer's Disease, Amyloidosis, Cardiac
Known Drugs/CompoundsBleomycin, Gap26
InteractionsABCA1, ACTB, Actin, ACTR2, ACTR3, AKT
SciDEX TargetView Target Profile (2 clinical trials)
SciDEX HypothesesAstroglial Gap Junction Coordination via Connexin-
CX43 hemichannel engineering enables size-selectiv
Astrocytic Connexin-43 Upregulation Enhances Neuro
KG Connections676 knowledge graph edges
DatabasesGeneCardsHPASTRING

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