HTRA2 deficiency

Synonym(s)
- 3-methylglutaconic aciduria type 8
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HTRA2 / HtrA Serine Peptidase 2
  2p13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Serine protease HtrA2, mitochondrial
Disease group(s)
- 11.3 Disorders of mitochondrial protein quality control