Gene: SLC6A1
Alternate names for this Gene: GABATHG|GABATR|GAT1|MAE
Gene Summary: The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals.
Gene is located in Chromosome: 3
Location in Chromosome : 3p25.3
Description of this Gene: solute carrier family 6 member 1
Type of Gene: protein-coding
rs1553690452 in
SLC6A1 gene and
Dysmorphic features
PMID 26716362 2016 Mosaic mutations in early-onset genetic diseases.
PMID 9623887 1998 Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.
PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
PMID 12451126 2002 Number, density, and surface/cytoplasmic distribution of GABA transporters at presynaptic structures of knock-in mice carrying GABA transporter subtype 1-green fluorescent protein fusions.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
rs752396911 in
SLC6A1 gene and
Epilepsy, Rolandic
PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
rs1064795099 in
SLC6A1 gene and
MYOCLONIC-ATONIC EPILEPSY
PMID 29315614 2018 Defining the phenotypic spectrum of SLC6A1 mutations.
PMID 28856709 2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
rs1553689580 in
SLC6A1 gene and
Muscle hypotonia
PMID 12451126 2002 Number, density, and surface/cytoplasmic distribution of GABA transporters at presynaptic structures of knock-in mice carrying GABA transporter subtype 1-green fluorescent protein fusions.
PMID 25865495 2015 Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 26716362 2016 Mosaic mutations in early-onset genetic diseases.
PMID 9623887 1998 Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.