IDH3A-related disease

Synonym(s)
- Mitochondrial NAD+-dependent isocitrate dehydrogenase 3 subunit alpha deficiency
Type

Disease
Gene
- IDH3A / Isocitrate Dehydrogenase 3 Subunit Alpha
  15q25.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
Multimer
- Isocitrate dehydrogenase 3
Pathway
- Pyruvate metabolism and Krebs cycle
Parent entry
- Isocitrate dehydrogenase-related disease
Child entries
- Retinitis pigmentosa type 90