Gene: [22q11/GGT1] gamma-glutamyltransferase 1 (GGT deficiency); glutathionuria (gamma-glutamyltranspeptidase deficiency);
|
FUN |
The reaction catalyzed:
(5-L-glutamyl)-peptide + an amino acid = peptide + 5-L-glutamyl-amino acid." |
|
FAG |
Figlewicz-1993 mapped 3 GGT loci to Chr 22: GEM:22q11/GGT1, GEM:22q11/GGT2 are centromeric to BCR complex (see for example GEM:22q1122/BCR1), and GEM:22q131/GGT3 is telomeric to BCR complex. He also identified 3 GGT-like sequences: GEM:18^/GGTL1, GEM:19^/GGTL2, GEM:20^/GGTL3. See also GEM:00.0/GGT5." |
|
HIS |
[1] Grausz-1989 indicated that there are probably four or five copies
of the GGT gene in the genome, at least one of them (the coding copy,
for which cDNA is cloned and amino acid sequence is deduced) being
tightly linked to BCR loci, i.e. located proximal to (closer to
centromere than) IGLC cluster.
[2] HGM10 registered two coding GGT copies with the same regional localization (GEM:22q11/GGT2). [3] Bulle-1987 demonstrated that the rat GGT cDNA probe hybridizes (besides the main region 22q11) with additional region q13.1, that was indirectly confirmed in the study of Pawlak-1988." |
|
REF |
PRO,RAT,LOC,MOL,HUM,FAG "Bulle F &: Hum Genet, 76, 283-286, 1987 IDN,LOC "Figlewicz DA &: Genomics, 17, 299-305, 1993 CLO,SEQ,EXP,EVO,RAT "Goodspeed DC &: Gene, 76, N1, 1-9, 1989 HUM,MAP,FAG "Grausz &: CCG, 51, (HGM10), 1007-1008, 1989 CLO,SEQ,RAT,PRO "Laperche Y &: PNAS, 83, N4, 937-941, 1986 IDN,LOC "Morris C &: Hum Genet, 91, 31-36, 1993 HUM,MAP,FAG "Pawlak A &: JBC, 263, 9913-9916, 1988 CLO,SEQ,MOP "Rajpert-DeMeyts E &: PNAS, 85, N23, 8840-8844, 1988 IDN,PAT,PHE "Schulman &: BBRC, 65, 68-74, 1975 |
|
KEY |
aac, pep, xen |
|
CLA |
coding, basic |
|
LOC |
22 q11 |
|
MIM |
MIM: 231950 |
|
EZN |
ENZYME: 2.3.2.2 |
