Gene: [20q112/GSS] glutathione synthetase; hereditary hemolytic anemia (due to deficiency of glutathione synthetase; MIM:231900); 5-oxoprolinuria (due to deficiency of glutathione synthetase; MIM:266130);
REF | MUT "Shi
Z-Z &: Nature Genet, 14, N3, 361-365, 1996 LOC "Webb GC &: Genomics, 30, N3, 617-619, 1995 |
SWI | SWISSPROT: P48637 |
KEY | hem, mtbd, xen, aac |
CLA | coding, basic |
LOC | 20 q11.2 |
MIM | MIM: 601002 |
EZN | ENZYME: 6.3.2.3 |