SLC6A11 - solute carrier family 6 member 11 Gene

Homo sapiens

Also known as GAT3; GAT4; GAT-3

Gene ID: 6538 | Gene type: protein coding

About SLC6A11

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,816,228-10,940,714 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues and 19 paralogues. Biased expression in brain (RPKM 2.2), esophagus (RPKM 0.8) and 3 other tissues.

Summary

The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

SLC6A11 Products(2)

mRNA	Protein	Name
NM_001317406.3	NP_001304335.1	sodium- and chloride-dependent GABA transporter 3 isoform 2
NM_014229.3	NP_055044.1	sodium- and chloride-dependent GABA transporter 3 isoform 1

SLC6A11 Protein Structure

SNF

0
100
200
300
400
500
632 a.a.

Protein Preferred Names

Protein Names

sodium- and chloride-dependent GABA transporter 3

GABA transporter 3

Related Diseases

Diseases

Alias

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy	Giant Axonal Neuropathy 1
Gan	GAN1
Giant Axonal Neuropathy-1	Neuropathy, Giant Axonal
Giant Axonal Disease	Neuropathy, Axonal, Giant, Type 1

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Iminoglycinuria

Iminoglycinuria, Digenic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13297	SLC6A11 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC6A11	VGNC	VGNC:77616
Rattus norvegicus	SLC6A11	RGD	RGD:628737
Felis catus	SLC6A11	VGNC	VGNC:65409
Canis familiaris	SLC6A11	VGNC	VGNC:46454
Mus musculus	SLC6A11	MGD	MGI:95630
Bos taurus	SLC6A11	VGNC	VGNC:34914

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