SLC52A2 Membrane Protein Introduction

Introduction of SLC52A2

SLC52A2 (solute carrier family 52 member 2), also known as GPR172A or RFVT2, is a 45.8 kDa membrane protein that is composed of 445 amino acids. In humans, it is encoded by the SLC52A2 gene, located in the chromosome 8q24.3. This protein, a member of the family of riboflavin transporters, transports a vitamin termed riboflavin (also known as vitamin B2) across the cell membrane. It is found that SLC52A2 presents at particularly high levels in cells of the spinal cord and brain, and is essential for the absorption of riboflavin from the bloodstream into these tissues.

Function of SLC52A2 Membrane Protein

There are three riboflavin transporters in humans namely SLC52A1, SLC52A2, and SLC52A3. They have been identified and distributed in a tissue-specific manner. SLC52A1 shares 86.7% amino acid identity with that of SLC52A2 as well as 44.1% with that of SLC52A3. Specifically, SLC52A2 is a transmembrane protein responsible for mediating the cellular uptake of riboflavin. SLC52A2, together with SLC52A3, are transporters of riboflavin, which is the precursor of flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). Both FAD and FMN function as coenzymes in the production of energy for cells and are significant cofactors for a broad variety of reactions in the oxidative metabolism of carbohydrates, amino acids, and fatty acids. Mutations in SLC52A2 gene have been related to the Brown-Vialetto-Van Laere (BVVL) syndrome, an autosomal recessive neurodegenerative disorder that is characterized by sensorineural deafness, respiratory difficulty, bulbar dysfunction, and axial and limb hypotonia. Additionally, spinocerebellar ataxia is reported to be linked to the deficiency of this gene.

Fig.1 Structure of SLC52A2 and localization and conservation of affected amino acid residues of identified mutations. (Haack, 2012)

Application of SLC52A2 Membrane Protein in Literature

1. Woodcock I.R., et al. Genetic, radiologic, and clinical variability in Brown-Vialetto-van Laere Syndrome. Semin Pediatr Neurol. 2018, 26:2-9. PubMed ID: 29961509
   
   

   Mutations in SLC52A2 and SLC52A3, coding for riboflavin transporters RFVT2 and RFVT3 respectively, are the genetic basis of Brown-Vialetto-van Laere syndrome. This article displays cases of two types of riboflavin transporter deficiency, emphasizing distinct clinical features of a rapidly progressive motor, sensorineural hearing loss, optic atrophy, and bulbar dysfunction.

2. Nimmo G.A.M., et al. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. Am J Med Genet A. 2018, 176(2): 399-403. PubMed ID: 29193829
   
   

   Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 are known to result in riboflavin transporter deficiency. Two new patients with riboflavin transporter deficiency are reported in this article, presented with complex II deficiency. These patients are supposed to be contained in the differential diagnosis, allowing early treatment and improving neurodevelopmental outcome.

3. Babanejad M., et al. SLC52A2 mutations cause SCABD2 phenotype: A second report. Int J Pediatr Otorhinolaryngol. 2018, 104: 195-199. PubMed ID: 29287867
   
   

   A novel mutation in SLC52A2 gene is reported in an Iranian family with ataxia, optic atrophy, and progressive severe hearing loss, by whole exome sequencing (WES). It is the second report of a genotype-phenotype connection between this syndrome termed spinocerebellar ataxia with SLC52A2 gene and blindness and deafness type 2 (SCABD2).

4. Wu A.M., et al. Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation. Am J Physiol Regul Integr Comp Physiol. 2016, 310(7): R578-85. PubMed ID: 26791833
   
   

   This review reveals that transcripts, encoding SLC52A2 and SLC52A3 member of recently discovered family of SLC52A riboflavin uptake transporters, are expressed in milk fat globules from human breast milk. Besides, both SLC52A2 and SLC52A3 mRNA are found to be upregulated in the mouse mammary gland during lactations.

5. Udhayabanu T., et al. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta. 2016, 462: 210-214. PubMed ID: 27702554
   
   

   It is the first report that displays mutations in two riboflavin transporters hRFVT-2 and hRFVT-3 in the same Brown-Vialetto-Van Laere Syndrom (BVVLS) patient. Here, c.62A>G [p.N21S] in SLC52A3 also seems to contribute more to the illness phenotype in this patient than c.421C>A [p.P141T] in SLC52A2.

SLC52A2 Preparation Options

To obtain a stable and full functional membrane protein, we present this powerful Magic™ membrane protein production platform with various flexible options, from which customers can choose the most suitable technology applied for their objectives. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-SLC52A2 antibody development services.

• Magic™ Membrane Protein Production Platform
• Magic™ Anti-Membrane Protein Antibody Discovery Platform

As a leading service provider in protein markets, Creative Biolabs has got high recognition from global followers for achieving kinds of challenging projects successfully. Now, we would like to introduce our systematic membrane protein preparation services in requirements using various strategies. Please feel free to contact us for more information.

Reference

1. Haack T B, et al. (2012). Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 35(6): 943-948.

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