gene 1,562 words KG: SCAR20 2026-03-26
kind:genesection:genesstate:published
Contents

SCAR20 Gene

🧬 Gene Info
Gene SymbolSCAR20
Full NameIQCA1 (IQ Motif Containing A)
AliasesIQCA1
FunctionThe discovery of SCAR20 as the causative gene for this syndrome provided important insights into the molecular pathways required for normal hearing development and cognitive function.
Subcellular LocalizationSignals (NLS)**: Target the protein to the nucleus - **Domain Architecture**: Th
Ensembl IDENSG00000165704
GeneCardsSCAR20
Human Protein AtlasSCAR20
IQ MotifsCalcium-independent calmodulin-binding motifs that mediate protein-protein interactions
Coiled-coil RegionsInvolved in protein oligomerization and complex formation
Nuclear Localization Signals (NLS)Target the protein to the nucleus
Domain ArchitectureThe N-terminal region contains the IQ motifs, while the C-terminal portion includes regions for nuclear targeting and protein interactions
NucleusPredominantly nuclear localization, particularly in the nucleolus
NucleolusEnriched in the nucleolus, suggesting a role in ribosome biogenesis
CytoplasmLower levels in the cytoplasm, potentially representing a pool for nuclear import
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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