Aralar deficiency

Synonym(s)
- Developmental and Epileptic Encephalopathy type 39
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC25A12 / Solute Carrier Family 25 Member 12
  2q31.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Calcium-binding mitochondrial carrier protein AGC1
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.2 Disorders of the Krebs cycle