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FLASH GENE

Symbol

SLC6A3

contributors: mct - updated : 20-04-2020

HGNC name	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
HGNC id	11049

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ADHD , PKDYS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     in early stages of non-small cell lung cancer (Kang 2008) constitutional   deletion     promoted a previously unobserved conformation of the intracellular gate of the transporter, likely representing the rate-limiting step of the transport process tumoral     --over   in Clear Cell Renal Cell Carcinoma

Susceptibility

to attention deficit hyperactivity disorder with preferential transmission of paternal alleles to bipolar affective disorder, psychiatric disorders of children and cigarette smoking, alcoholism, cocaine-induced paranoia to migraine with aura to hypertension

Variant & Polymorphism repeat	Int8 VNTR is associated with cocaine dependence
	10 repeat allele of the 3' UTR VNTR show a significant main effect on relative SLC6A3 expression
	SLC6A3 40bo VNTR showed an association with the peak tic severity in Tourette Syndrome (patients with one copy of the 9-repeat allele had significantly more severe symptoms than individuals with the homozygous 10/10 genotype)
	SLC6A3 genotype influence these attentional/cognitive functions which deficits are not the key symptoms in ADHD
	SLC6A3-MS8 (rs3836790), having an 8/6-repeat allele, which was only detected in hypertensive cases, was associated with hypertension

Candidate gene	candidate gene for Parkinson's disease (PD) on the basis of its critical role in dopaminergic neurotransmission
Marker	potential epigenetic biomarker with value in the early diagnosis and management of neurodevelopmental diseases in newborns
	novel biomarker that is highly specific for ccRCC (Clear Cell Renal Cell Carcinoma)
Therapy target	target of psychomotor stimulants such as amphetamines or cocaine
	is a target for psychoactive drugs (Dreher 2009)
	System Type Disorder Pubmed psychiatry     targeting SLC6A3 activity might be a very attractive approach to tackle affective disorders

ANIMAL & CELL MODELS

	mice lacking SLC6A3 protein have elevated dopaminergic tone and are hyperactive, with a decrease in locomotion in response to psychostimulants
	SLC6A3 null mice with pharmacologic inhibition of tyrosine hydroxylase demonstrated severe akinesia, rigidity, tremor and psotis similar to behaviors observed in patients with Parkinson Disease. L-dopa temporarily restored locomotion and amphetamines deriatives showed effectiveness in reducing motor abnormalities