2011 Fiscal Year Final Research Report
Pathophysiological role of riboflavin transporter RFT based on the clinical data
| Project/Area Number |
22790154
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Medical pharmacy
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2011
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| Keywords | 薬学 / 薬物動態学 / ビタミンB2 / 先天性疾患 / 膜タンパク質 |
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| Research Abstract |
Riboflavin transporters had been identified. The purpose of this study is to clarify the physiological role of RFT1 and its homologues. RFT3, which is expressed in the brain, was identified. The functional characteristics of RFTs were elucidated. Heterozygous deletion in the RFT1 gene was found. In addition, RFT genes were registered in the HGNC database. In conclusion, we obtained novel findings in the physiological role of RFTs.
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[Journal Article] Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B2011
Author(s)
Ho G, Yonezawa A, Masuda S, Inui K, Sim KG, Carpenter K, Olsen RK, Mitchell JJ, Rhead WJ, Peters G, Christodoulou J.
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Journal Title
Hum Mutat.
Volume: 32(1)
Pages: 1976-1984
DOI
Peer Reviewed
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