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