gene 2,421 words KG: JOIN
Contents

JOIN — Junctlophilin Family Member

🧬 Gene Info
Gene SymbolJOIN
Full NameJunctlophilin Family Member
Chromosome17q21.31
Functionis a member of the junctophilin family of membrane proteins that play critical roles in coupling intracellular calcium stores with plasma membrane calcium channels.
Primary Expressionmultiple tissues with the highest levels in:
Molecular Weight65 kDa
UniProt IDQ9HB73
NCBI Gene ID57402
Ensembl IDENSG00000150045
OMIM607317
GeneCardsJOIN
Human Protein AtlasJOIN
BrainParticularly in the cortex, hippocampus, cerebellum, and basal ganglia
HeartCardiac muscle cells (cardiomyocytes)
Skeletal MuscleSkeletal muscle fibers
Associated DiseasesAlzheimer's disease, Parkinson's disease
DatabasesGeneCardsHPASTRING

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Related Hypotheses (24)

Netrin-1 Gradient Restoration
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← Prevpg 2/2

Related Analyses (19)

Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
4R-tau strain-specific spreading patterns in PSP vs CBD
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TDP-43 phase separation therapeutics for ALS-FTD
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Blood-brain barrier transport mechanisms for antibody therap
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APOE4 structural biology and therapeutic targeting strategie
neurodegeneration · archived

Related Experiments (7)

Cytochrome Therapeutics
clinical · proposed · Score: 0.40
ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
Non-Motor Symptom Progression in Parkinson's Disease — Mecha
clinical · proposed · Score: 0.40
Mechanism: C9orf72 Hexanucleotide Repeat Expansion in ALS/FT
validation · proposed · Score: 0.40
AAV-LRRK2 Gene Therapy IND-Enabling Study Design
clinical · proposed · Score: 0.40

See Also (1)

Neurodegeneration
disease · KG edge: implicated_in

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