Glutamate pyruvate transaminase 2 deficiency

(GPT2 deficiency)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GPT2 / Glutamic Pyruvate Transaminase 2
  16q11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutamic pyruvic transaminase 2, mitochondrial
Pathway
- Glutamate/glutamine and aspartate/asparagine metabolism
Disease group(s)
- 1.9 Disorders of glutamate/glutamine and aspartate/asparagine metabolism