Gene: GGT1

Alternate names for this Gene: CD224|D22S672|D22S732|GGT|GGT 1|GGTD|GTG

Gene Summary: The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23

Description of this Gene: gamma-glutamyltransferase 1

Type of Gene: protein-coding

rs5751902 in GGT1 gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs2006227 in GGT1 gene and Protein measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs2006092 in GGT1 gene and Serum gamma-glutamyl transferase measurement PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

PMID 18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.