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FLASH GENE
Symbol SORT1 contributors: shn/ - updated : 11-10-2017
HGNC name sortilin 1
HGNC id 11186
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
age-down regulated in the frontal cortex
Susceptibility
  • associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides
  • to myocardial infarction
  • Variant & Polymorphism other
  • strongly associated with both plasma low-density lipoprotein cholesterol (LDL-C) and myocardial infarction
  • common noncoding polymorphism at the 1p13 locus, rs12740374, creates a C/EBP (CCAAT/enhancer binding protein) transcription factor binding site and alters the hepatic expression of the SORT1, increasing the risk of myocardial infarction
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestiveliver 
    therapeutic inhibition of SORT1 may be beneficial in improving hepatic cholesterol homeostasis in metabolic and inflammatory liver diseases
    ANIMAL & CELL MODELS
  • SORT1-knockout mice have reduced levels of neuronal apoptosis in the developing retina, are protected against agedependent degeneration of sympathetic neurons and are
  • rescued from axotomy-induced death of corticospinal motor neurons
  • overexpression in mouse liver, we demonstrate that Sort1 alters plasma LDL-C and very low-density lipoprotein (VLDL) particle levels by modulating hepatic VLDL secretion