SLC6A12 - solute carrier family 6 member 12 Gene

Homo sapiens

Also known as BGT1; GAT2; BGT-1

Gene ID: 6539 | Gene type: protein coding

About SLC6A12

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:183,848-214,157 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues and 19 paralogues. Biased expression in liver (RPKM 12.1), kidney (RPKM 10.0) and 5 other tissues.

Summary

Enables monocarboxylic acid transmembrane transporter activity. Involved in monocarboxylic acid transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in neuron projection. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC6A12 Products(4)

mRNA	Protein	Name
NM_001122847.3	NP_001116319.1	sodium- and chloride-dependent betaine transporter
NM_001122848.3	NP_001116320.1	sodium- and chloride-dependent betaine transporter
NM_001206931.2	NP_001193860.1	sodium- and chloride-dependent betaine transporter
NM_003044.5	NP_003035.3	sodium- and chloride-dependent betaine transporter

SLC6A12 Protein Structure

SNF

0
100
200
300
400
500
614 a.a.

Protein Preferred Names

Protein Names

sodium- and chloride-dependent betaine transporter

Na(+)/Cl(-) betaine/GABA transporter

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 11

Spinocerebellar Ataxia Type 11	SCA11
Spinocerebellar Ataxia-11	Ataxia, Spinocerebellar, Type 11

Syringomyelia

Hydromyelia

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

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-RS13298	SLC6A12 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC6A12	VGNC	VGNC:46455
Bos taurus	SLC6A12	VGNC	VGNC:34915
Mus musculus	SLC6A12	MGD	MGI:95628
Rattus norvegicus	SLC6A12	RGD	RGD:620255

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