HOIL1 interacting protein deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- RNF31 / Ring Finger Protein 31
  14q12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- E3 ubiquitin-protein ligase RNF31
Pathway
- Glycogen metabolism
Disease group(s)
- 3.4.4 Polyglucosan storage disorders