ID 110434
Title Transcription
アミノサン ニョウショウ ノ ブンシ イデンガク
Title Alternative
Molecular biology of aminoacidurias
Author
Miyamoto, Ken-ichi Department of Nutrition, The University of Tokushima School of Medicine Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Segawa, Hiroko Department of Nutrition, The University of Tokushima School of Medicine Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Keywords
amino acid
transporter
cystinuria
LPI
Content Type
Journal Article
Description
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.
Journal Title
四国医学雑誌
ISSN
00373699
NCID
AN00102041
Publisher
徳島医学会
Volume
56
Issue
1
Start Page
19
End Page
24
Sort Key
19
Published Date
2000-02-25
FullText File
language
jpn
TextVersion
Publisher
departments
Medical Sciences