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MBTPS2 - membrane bound transcription factor peptidase, site 2
- Synonym(s) : S2P, site-2 protease
- Previous symbols and names : KFSD, keratosis follicularis spinulosa decalvans, membrane-bound transcription factor protease, site 2
- Type : gene with protein product
- Chromosomal location : Xp22.12
- OMIM: 300294
- HGNC: 15455
- UniProtKB: O43462
- Genatlas: MBTPS2
- GenCC: MBTPS2
- Ensembl: ENSG00000012174
- IUPHAR-DB: -
- Reactome: O43462
- LOVD: MBTPS2
Diseases list
- Disease-causing germline mutation(s) in BRESEK syndrome
ORPHA:85284 
- Disease-causing germline mutation(s) in Ichthyosis follicularis-alopecia-photophobia syndrome
ORPHA:2273 - Disease-causing germline mutation(s) in Keratosis follicularis spinulosa decalvans
ORPHA:2340 - Disease-causing germline mutation(s) in Mutilating palmoplantar keratoderma with periorificial keratotic plaques
ORPHA:659 - Disease-causing germline mutation(s) (loss of function) in Osteogenesis imperfecta type 1
ORPHA:216796
: AssessedAdditional information
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