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.
|Basic Information of SLC52A2|
|Protein Name||Solute carrier family 52, riboflavin transporter, member 2|
|Aliases||Porcine endogenous retrovirus A receptor 1, PERV-A receptor 1, Protein GPR172A, Riboflavin transporter 3, hRFT3|
|Organism||Homo sapiens (Human)|
|Transmembrane Times||11 (putative)|
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
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.
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.
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).
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.
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.
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