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FLASH GENE
Symbol SORCS3 contributors: shn/npt - updated : 07-07-2020
HGNC name sortilin-related VPS10 domain containing receptor 3
HGNC id 16699
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
a neurological phenotype including infantile spasms, intellectual disability, global developmental delay, microcephaly, hypotonia, spastic quadriplegia, and delayed myelination
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Sorcs3-deficient mice suffer from deficits in behavioral activities associated with hippocampal long-term depression (LTD), particularly from an accelerated extinction of fear memory