gene 620 words KG: REEP1
Contents

REEP1 Gene

🧬 Gene Info
Gene SymbolREEP1
Functionis an important component in the neurobiology of neurodegenerative diseases.
Molecular Weight22 kDa
Amino Acids199 aa
PathwaysPI3K/Akt pathway
Ensembl IDENSG00000068615
GeneCardsREEP1
Human Protein AtlasREEP1
Mitochondrial Cristae StructureShapes mitochondrial cristae and maintains cristae junctions essential for optimal oxidative phosphorylation
Axonal Mitochondria DistributionCritical for proper distribution and anchoring of mitochondria in axons, particularly at synaptic terminals
ER-Mitochondria ContactsRegulates membrane contact sites (MCS) between endoplasmic reticulum and mitochondria for calcium exchange and lipid transfer
Axonal TransportWorks with microtubule motors (kinesin/dynein) for organelle trafficking along axons
Mitochondrial Protein ImportFacilitates import of proteins into the mitochondrial matrix
BrainCerebral cortex, hippocampus, basal ganglia, and Purkinje cells of cerebellum
Spinal CordMotor neurons in the ventral horn
Associated Diseasesmuscular_dystrophy, white_matter_damage
KG Connections4 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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