Site-1 protease deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- MBTPS1 / Membrane Bound Transcription Regulator 1
  16q23.3-q24.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Membrane-bound transcription factor site-1 protease
Parent entry
- 20.8 Other disorders of complex molecule degradation