AP3B1 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- AP3B1 / adaptor related protein complex 3 subunit beta 1
  5q14.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adapter protein complex 3 subunit beta 1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes
Child entries
- Hermansky-Pudlak syndrome type 2