Adenine nucleotide translocator deficiency

Synonym(s)
- Mitochondrial DNA depletion syndrome type 12 (cardiomyopathic type),
- adPEO with mitochondrial DNA deletions type 2
Type

Disease
External link(s)
- IEMbase
Gene
- SLC25A4 / solute carrier family 25 member 4
  4q35.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adenine nucleotide translocase 1
Disease group(s)
- 11.1 Disorders of mitochondrial shuttles and carriers