Pitrilysin metallopeptidase 1 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- PITRM1 / Pitrilysin Metallopeptidase 1
  10p15.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pitrilysin metallopeptidase 1
Disease group(s)
- 11.3 Disorders of mitochondrial protein quality control