MBTPS2
membrane bound transcription factor peptidase, site 2
Ассоциированные заболевания
Герминативная мутация (причина)6
Keratosis follicularis spinulosa decalvansORPHA:2340
→Ichthyosis follicularis-alopecia-photophobia syndromeORPHA:2273
→Osteogenesis imperfecta type 3ORPHA:216812
→Osteogenesis imperfecta type 4ORPHA:216820
→Mutilating palmoplantar keratoderma with periorificial keratotic plaquesORPHA:659
→BRESEK syndromeORPHA:85284
→Disease-causing germline mutation(s) (loss of function) in1