Symbol
| SLC18A1
| contributors: mct - updated : 04-05-2020
|
HGNC name
| solute carrier family 18 (vesicular monoamine), member 1
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HGNC id
| 10934
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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constitutional
| germinal mutation
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confer functional changes and multi-directional evolution in the regulation of monoamine circuits | tumoral
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| --over
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associated with a significantly increased survival in patients with lung adenocarcinoma, but not those with squamous carcinoma | |
Susceptibility
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to Autism Spectrum Disorders (ASD) to anxiety, affective, and alcohol use disorders |
Variant & Polymorphism
SNP
| rs1390938 [Thr136Ile])is significant over-presented in ASD |
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SLC18A1 rs1390938/Thr136Ile is associated with mood, personality, and alcohol use in the general population |
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SLC18A1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits and risk for psychopathology |
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Candidate gene
Marker
Therapy target
| | | |
| 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 |