Home Page |
Orphanet | References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 24/08/2007 |
Symbol | GGT1 |
Location | 22q11.23 |
Name | glutathionuria |
Corresponding gene | GGT1 |
Main clinical features | paucisymptomatic patients, with glutathionemia and marked glutathionuria |
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/aminoacids |
metabolism/organic acid | |
Type | disease |
Gene product |
Name | gamma-glutamyltransferase (GGT6) |
Remark(s) |