SLC52A1 Antibody, Biotin conjugated

1. We here report a case of transient MADD, caused by a heterozygous intronic variation, c.1134+11G>A, in the SLC52A1 gene encoding RFVT1. This variation creates a binding site for the splice inhibitory hnRNP A1 protein and causes exon 4 skipping. Riboflavin deficiency and maternal malnutrition during pregnancy might have been the determining factor in the outcome of this case. PMID: 29122468
2. In HT-29 cells, the RFVT1 protein level was drastically lower. In tumor tissues of patients with CRC, RFVT1 content was reduced at both protein and mRNA levels compared to normal mucosa. PMID: 29715086
3. results are the first to reveal the identity of the minimal SLC52A1 promoter and to establish an important role for Sp-1 in its activity PMID: 25284511
4. data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative. PMID: 24139842
5. summary of recent findings on the cloning, nomenclature, functional characterization and genetic diseases of RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3 [review] PMID: 23506902
6. Intestinal riboflavin uptake process undergoes differentiation-dependent upregulation and suggest that this is mediated (at least in part) via transcriptional mechanisms of SLC52A1 and SLC52A3. PMID: 23413253
7. We demonstrated that TFAP-2gamma is one of the transcription factors involved in the PAR-2 expression in human villous trophoblast cells. PMID: 22702469
8. Identification/characterization riboflavin trasporter (RFT1) as a novel riboflavin transporter. PMID: 18632736

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HGNC: 30225

OMIM: 607883

KEGG: hsa:55065

STRING: 9606.ENSP00000254853

UniGene: Hs.632247