SLC19A2 Membrane Protein Introduction

Introduction of SLC19A2

Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute family 19 member 2 (SLC19A2) is a protein that is encoded by the SLC19A2 gene in humans. SLC19A2 is a thiamine transporter. In melanocytes, the expression of SLC19A2 gene can be regulated by MITF. SLC19A2 is a high-affinity transporter for the ingestion of thiamine.

Basic Information of SLC19A2
Protein Name	Thiamine transporter 1 (ThTr1)
Gene Name	SLC19A2
Aliases	Solute carrier family 19 member 2，Thiamine carrier 1(TC1)
Organism	Homo sapiens (Human)
UniProt ID	O60779
Transmembrane Times	12
Length (aa)	497
Sequence	MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQSSSQVTTS

Function of SLC19A2 Protein

Mutations in SLC19A2 result in thiamine-responsive giant cell anemia syndrome (TRMA), an autosomal recessive disorder characterized by diabetes, giant cell anemia, and sensorineural deafness. TRMA was confirmed in the mutation of SLC19A2. A homozygous splicing site was detected in the SLC19A2 gene. A mutation in the SLC19A2 gene, which encodes the thiamine transporter transporter 1 (THTR1), is associated with TRMA. Despite the need to take thiamine for life to improve blood and endocrine diseases, it does not respond to neurological symptoms including hearing loss.

Fig.1 The structure of SLC19A2 Protein.

Application of SLC19A2 Protein in Literature

Tahir, S., et al. A Novel Homozygous SLC19A2 Mutation in a Portuguese Patient with Diabetes Mellitus and Thiamine-Responsive Megaloblastic Anaemia. International Journal of Pediatric Endocrinology. 2015 (1): 6. PubMed ID: 25878670

The report indicates that SLC19A2 is not limited to blood relatives or apartheid families, but should be considered a differential diagnosis of patients with clinical symptoms.
Karimzadeh P., et al. Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation. Iranian Journal of Child Neurology. 2018, 12(1):84-88. PubMed ID: 29379566

The authors recommend that more research be needed to clarify any link between SLC19A2 and stroke as a result of this disease.
Ghaemi N., et al. Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases. Journal of Clinical Research in Pediatric Endocrinology.2013,5 (3): 199–201. PubMed ID: 24072090

This article suggests that administration of thiamine improves macrophage anemia and hyperglycemia in patients with SLC19A2.
Srinivasan P., et al. Chronic Nicotine Exposure In Vivo and In Vitro Inhibits Vitamin B1 (Thiamin) Uptake by Pancreatic Acinar Cells. PLoS ONE. 2015, 10(12): e0143575. PubMed ID: 26633299.

This study suggests that this effect is regulated to some extent by the transcriptional machinery (s), affecting the SLC19A2 and SLC19A3 genes.
Aïssi D., et al. Genome-Wide Investigation of DNA Methylation Marks Associated with FV Leiden Mutation. PLoS ONE.2014,9 (9): e108087. PubMed ID: 25265411

These results indicate that the DNA methylation level of SLC19A2 is affected by SNPs of FV Leiden.

SLC19A2 Preparation Options

To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-SLC19A2 antibody development services.

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All listed services and products are For Research Use Only. Do Not use in any diagnostic or therapeutic applications.

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