SLC52A2 Antibody

1. RFVT2 gene and protein expression levels were higher in DLD-1 and HT-29 compared to Caco2 cells. In tumor tissues of patients with CRC, RFVT2 gene expression levels were increased, while protein expression was reduced, with a small reduction in riboflavin amount. PMID: 29715086
2. This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene. PMID: 29287867
3. Eight mutations in SLC52a2 were associated with Brown-Vialetto-Van Laere syndrome. PMID: 29053833
4. A novel SLC52A2 mutation identified in a family with spinocerebellar ataxia with blindness and deafness. PMID: 26669662
5. This study showed that Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency and improved by riboflavin treatment. PMID: 26918385
6. These results strongly implicate a potential role for SLC52A2 in riboflavin uptake by milk-producing MECs, a critical step in the transfer of riboflavin into breast milk. PMID: 26791833
7. Mutations in SLC52A2 result in a recognizable phenotype distinct from Brown-Vialetto-Van-Laere syndrome. PMID: 24616084
8. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression PMID: 24253200

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HGNC: 30224

OMIM: 607882

KEGG: hsa:79581

STRING: 9606.ENSP00000333638

UniGene: Hs.6459