CLPB deficiency

Synonym(s)
- 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CLPB / Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit
  11q13.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Caseinolytic peptidase B protein homolog
Disease group(s)
- 11.3 Disorders of mitochondrial protein quality control