Niemann-Pick disease type C2

Type

Disease
External link(s)
- IEMbase
Gene
- NPC2 / NPC Intracellular Cholesterol Transporter 2
  14q24.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- NPC Intracellular Cholesterol Transporter 2
Parent entry
- Niemann-Pick disease type C