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ID 110434
タイトルヨミ
アミノサン ニョウショウ ノ ブンシ イデンガク
タイトル別表記
Molecular biology of aminoacidurias
著者
キーワード
amino acid
transporter
cystinuria
LPI
資料タイプ
学術雑誌論文
抄録
The homologous proteins rBAT and 4F2hc have been identified as the heavy chains off amily of heteromeric amino acid transporters in mammls. Six light subunits of 4F2hc(LAT 1, LAT 2, y+LAT 1, y+LAT 2, asc 1, and xCT) and one of rBAT (BAT 1) are known.These glycoprotein-associated amino acid transporters, which follow the 12 transmembranetopology model, form heterodimers with the corresponding subunit and then are expressedin the plasma membrane. 4F2hc and y+LAT 1 express system y+L transport activity. On the other hand, rBAT and BAT 1 express system b0,+ activity. BAT 1 and y+LAT 1 have atissue distribution and a chromosomal location that made them good candidate genesfor cystinuria and lysinuric protein intolerance (LPI). Mutational analysis revealedcystinuria-associated mutations for BAT1 and LPI-associated mutations for y+LAT1. Transport defects have been shown for some of the BAT1 and y+LAT1 mutations. In addition, we focus on the animal members of the LAT cluster that form the family of glycoprotein-associated amino acid transporters.
掲載誌名
四国医学雑誌
ISSN
00373699
cat書誌ID
AN00102041
出版者
徳島医学会
56
1
開始ページ
19
終了ページ
24
並び順
19
発行日
2000-02-25
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
医学系