m-AAA protease subunit AFG3L2 deficiency

Synonym(s)
- Autosomal recessive spastic ataxia type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AFG3L2 / AFG3 Like Matrix AAA Peptidase Subunit 2
  18p11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- AFG3-like protein 2, mitochondrial
Disease group(s)
- 11.3 Disorders of mitochondrial protein quality control
Child entries
- Spinocerebellar ataxia type 28