Entity Details

Primary name GGT1
Entity type gene
Source Source Link

Details

PrimaryID2678
RefseqGeneNG_008111
SymbolGGT1
Namegamma-glutamyltransferase 1
Chromosome22
Location22q11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGGT1_HUMAN

GO terms

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GOName
GO:0000048 peptidyltransferase activity
GO:0002682 regulation of immune system process
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0002951 leukotriene-C(4) hydrolase
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0006508 proteolysis
GO:0006520 cellular amino acid metabolic process
GO:0006536 glutamate metabolic process
GO:0006631 fatty acid metabolic process
GO:0006691 leukotriene metabolic process
GO:0006750 glutathione biosynthetic process
GO:0006751 glutathione catabolic process
GO:0007283 spermatogenesis
GO:0016021 integral component of membrane
GO:0019344 cysteine biosynthetic process
GO:0031179 peptide modification
GO:0031638 zymogen activation
GO:0032355 response to estradiol
GO:0032496 response to lipopolysaccharide
GO:0034612 response to tumor necrosis factor
GO:0036374 glutathione hydrolase activity
GO:0046222 aflatoxin metabolic process
GO:0050727 regulation of inflammatory response
GO:0070062 extracellular exosome
GO:0102953 hypoglycin A gamma-glutamyl transpeptidase activity
GO:0103068 leukotriene C4 gamma-glutamyl transferase activity
GO:1901750 leukotriene D4 biosynthetic process

Diseases

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Disease IDSourceNameDescription
231950 OMIMGlutathionuria (GLUTH)A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma-glutamyl transpeptidase deficiency. Most patients manifest mild to moderate mental retardation, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients. The disease is caused by variants affecting the gene represented in this entry. A large homozygous deletion that removes several exons of all isoforms of GGT1 has been found in one family affected by glutathionuria.