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

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