SLC18A1

Chr 8

solute carrier family 18 member A1

Also known as: CGAT, VAT1, VMAT1

NCBI Gene: 6570 ENSG00000036565 UniProt: P54219 OMIM: 193002

The vesicular monoamine transporter 1 protein accumulates monoamines (including serotonin, dopamine, and norepinephrine) into synaptic vesicles by exchanging monoamines for protons, which is essential for proper neurotransmitter release. Mutations cause vesicular monoamine transporter 1 deficiency, a rare movement disorder with infantile onset featuring hypotonia, developmental delay, and movement abnormalities. This gene follows autosomal recessive inheritance and shows very low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.59

LOEUF

Multiple*

Mechanism· predicted