Gene: [06p12/GLCLC] glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), catalytic (72.8kD); hereditary hemolytic anemia (due to gamma-glutamylcysteine synthetase deficiency);


MOP

Glutamate-cysteine ligase is a heterodimer of catalytic (heavy) and regulatory (light) (GEM:01p21/GLCLR) chains."

REF

CLO,SEQ "Gipp JJ &: BBRC, 185, 29-35, 1992
PAT "Konrad PN &: New Engl J Med, 286, 557-561, 1972
LOC "Sierra-Rivera E &: CCG, 70, 278-279, 1995
LOC "Tsuchiya K &: Genomics, 30, 630-632, 1995
LIN,MAP "Walsh AC &: CCG, 75, 14-16, 1996

SWI

SWISSPROT: P48506

KEY

aac, vit

CLA

coding, basic

LOC

06 p12

MIM

MIM: 230450

EZN

ENZYME: 6.3.2.2