Gene: GOT1

Alternate names for this Gene: AST1|ASTQTL1|GIG18|cAspAT|cCAT

Gene Summary: Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: glutamic-oxaloacetic transaminase 1

Type of Gene: protein-coding

rs11813054 in GOT1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs76850691 in GOT1 gene and Aspartate aminotransferase measurement PMID 24124411 2013 Genome-wide association study of liver enzymes in korean children.

PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

rs2642 in GOT1 gene and CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs11819158 in GOT1 gene and Peripheral Arterial Diseases PMID 27082954 2016 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

rs11813054 in GOT1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.