Introduction of SLC6A1
SLC6A1 is encoded by SLC6A1 gene. It belongs to the solute carrier family 6 which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. It is a gamma-aminobutyric acid (GABA) transporter which can remove GABA to synaptic cleft. Meanwhile, many studies conducted on SLC6A1 show that it is related to various diseases, such as myoclonic-atonic epilepsy and myoclonic-astastic epilepsy.
|Basic Information of SLC6A1|
|Protein Name||Sodium- and chloride-dependent GABA transporter 1|
|Aliases||GABATR, GABT1, GAT1|
|Organism||Homo sapiens (Human)|
Function of SLC6A1 Membrane Protein
SLC6A1, also named as GABA transporter 1, is a member of the main inhibitory transmitter in the brain, the main messenger that says “no” in the CNS. Recent studies have indicated that SLC6A1 variants are strongly associated with autistic spectrum disorder. In addition, research has confirmed several SLC6A1 SNPs could be potential therapeutic targets for epilepsy and play an important role in attention-deficit/hyperactivity disorder risk.
Fig.1 SLC6A1 mutations in myoclonic astatic epilepsy.
Application of SLC6A1 Membrane Protein in Literature
This article reports the relationship between the SLC6A1 mutations and language delay as well as autistic spectrum disorder. These results indicate that its variants could be potential therapeutic targets for these diseases.
This article reveals that a single allele of SLC6A1 is related with epilepsy and NAA15 is a biomarker for congenital heart defects by using whole genome sequencing and direct Sanger sequencing.
Authors in this group analyze the expression level of SLC6A1 in CCRCC cells to identify the association between SLC6A1 and miR-200c-3p. The data show that the miR-200c-3p serves as a suppressor for CCRCC via down-regulating SLC6A1.
This article focuses on the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. The results suggest that SLC6A1 variants are strongly associated with myoclonic atonic epilepsy, and have a phenotype with language delay and mild/moderate ID.
This article conducts a case-control study to examine the expression of SLC6A1 and the gene polymorphisms in patients who suffer from attention-deficit/hyperactivity disorder. The data illustrate that several variants of SLC6A1 genes have a significant effect on the ADHD risk.
SLC6A1 Preparation Options
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