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FLASH GENE

Symbol

GOT1

contributors: mct/npt - updated : 08-10-2019

HGNC name	glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)
HGNC id	4432

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome (Struski 2008)

Susceptibility

to Macro-aspartate aminotransferase (macro-AST)

Variant & Polymorphism	missense variant (p.Gln208Glu, rs374966349) in GOT1 was found, as a putative causal variant predisposing to familial macro-AST

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas therapy target in pancreatic ductal adenocarcinoma (PDAC) cancer endocrine pancreas small molecule inhibitors that target GOT1 could serve as starting points for the development of new therapies for pancreatic cancer cancer     is a possible target in cancer therapy

ANIMAL & CELL MODELS