Gene: GPT

Alternate names for this Gene: AAT1|ALT1|GPT1

Gene Summary: This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: glutamic--pyruvic transaminase

Type of Gene: protein-coding

Gene: LOC101928953

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs200088103 in GPT;LOC101928953 gene and Alanine aminotransferase measurement PMID 30718733 2019 Furthermore, two novel missense variants of GPT with rare frequency in East Asians but extreme rarity in other populations were associated with alanine aminotransferase (rs200088103; p.Arg133Trp, P = 2.02 × 10<sup>-9</sup> and rs748547625; p.Arg143Cys, P = 1.41 × 10<sup>-6</sup>).

rs200088103 in GPT;LOC101928953 gene and Serum Alanine Aminotransferase Measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.