SLC6A12 Membrane Protein Introduction

Introduction of SLC6A12

SLC6A12 is encoded by SLC6A12 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. SLC6A12 mediates the transport of the neurotransmitter GABA, but with a lower affinity compared to other GABA transporters. Meanwhile, many studies conducted on SLC6A12 show that it is related to various diseases, such as traumatic glaucoma and spinocerebellar ataxia 11.

Basic Information of SLC6A12
Protein Name	Sodium- and chloride-dependent betaine transporter
Gene Name	SLC6A12
Aliases	BGT1
Organism	Homo sapiens (Human)
UniProt ID	P48065
Transmembrane Times	12
Length (aa)	614
Sequence	MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTPFENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQGCLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGPGLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGRRELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGWFLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSPTREGLIAGEKETHL

Function of SLC6A12 Membrane Protein

SLC6A12, also named as betaine transporter 1 (BGT1), is the osmolyte branch of the human neurotransmitter sodium symporter (NSS). It can mainly express in brain, liver, and kidney. Recent studies have indicated that SLC6A12 plays a role in controlling brain excitability and thereby represents a target for anticonvulsive drug development. In addition, research has confirmed several SLC6A12 variants could be used as biomarkers in epilepsy.

SLC6A12 Membrane Protein Introduction Fig.1 Sequence alignment and homology model of the NSS family transporter BGT-1. (Schweikhard, 2015)

Application of SLC6A12 Membrane Protein in Literature

Sung H.Y., et al. Aberrant hypomethylation of solute carrier family 6 member 12 promoter induces metastasis of ovarian cancer. Yonsei Med. 2017, 58(1): 27-34. PubMed ID: 27873492

This article analyzes the expression and promoter CpG sites methylation levels of SLC6A12 in a xenograft mouse with ovarian cancer. These results indicate that SLC6A12 is highly expressed in mouse and its DNA methylation of promoter CpG sites is decreased in tumor metastases.
Li J., et al. Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy. J Genet. 2015, 94(4): 637-42. PubMed ID: 26690518

This article reports that the relationship between the two functional SLC6A12 mutations and temporal lobe epilepsy. These results indicate that rs542736 G-rs557881 A haplotypes could be potential therapeutic targets for this disease.
Kempson S.A., et al. The betaine/GABA transporter and betaine: roles in brain, kidney, and liver. Front Physiol. 2014, 5: 159. PubMed ID: 24795654

Authors in this group identify the function of SLC6A12 in brain, kidney, and liver. The data suggest betaine plays an important role in transcriptional regulation of BGT1.

SLC6A12 Preparation Options

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Reference

Schweikhard E S, et al. (2015). Role of N-glycosylation in renal betaine transport. Biochem J. 470(2), 169-79.

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