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FLASH GENE
Symbol SLC18A1 contributors: mct - updated : 04-05-2020
HGNC name solute carrier family 18 (vesicular monoamine), member 1
HGNC id 10934
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
confer functional changes and multi-directional evolution in the regulation of monoamine circuits
tumoral     --over  
associated with a significantly increased survival in patients with lung adenocarcinoma, but not those with squamous carcinoma
Susceptibility
  • to Autism Spectrum Disorders (ASD)
  • to anxiety, affective, and alcohol use disorders
  • Variant & Polymorphism SNP
  • rs1390938 [Thr136Ile])is significant over-presented in ASD
  • SLC18A1 rs1390938/Thr136Ile is associated with mood, personality, and alcohol use in the general population
  • SLC18A1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits and risk for psychopathology
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • VMAT1 KO mice have decreased dopamine levels in the frontal cortex, increased postsynaptic D2 expression, and lower frontal cortex tyrosine hydroxylase expression compared to WT mice