GOT1 Chromosome 10

Glutamic-oxaloacetic transaminase 1
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glutamic-oxaloacetic transaminase family
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000120053
Associated Conditions (3)
ASPARTATE AMINOTRANSFERASE
SERUM LEVEL OF
QUANTITATIVE TRAIT LOCUS 1
Key Variants
RS749913156
Pathogenic
ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS749913156 Health Risk Pathogenic ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
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