Citrin deficiency

Synonym(s)
- Citrullinemia type 2
Type

Disease
External link(s)
Gene
- SLC25A13 / solute carrier family 25 member 13
  7q21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Calcium-binding mitochondrial carrier protein aralar1
Pathway
- Urea Cycle
Disease group(s)
- 1.1 Urea cycle disorders and inherited hyperammonemias
Child entries
- SLC25A13-related neonatal intrahepatic cholestasis