Preferred Label : MBTPS2 wt Allele;
NCIt synonyms : KFSD; KFSDX; Membrane-Bound Transcription Factor Protease, Site 2 Gene; IFAP; Site-2 Protease Gene; S2P; OLMSX; Keratosis Follicularis Spinulosa Decalvans Gene; Membrane Bound Transcription Factor Peptidase, Site 2 wt Allele; OI19; BRESEK;
NCIt definition : Human MBTPS2 wild-type allele is located in the vicinity of Xp22.12 and is approximately
46 kb in length. This allele, which encodes membrane-bound transcription factor site-2
protease protein, is involved in intramembrane proteolysis of membrane bound transcription
factors, such as sterol regulatory element-binding proteins (SREBPs). Mutation of
the gene is associated with X-linked Olmsted syndrome, X-linked keratosis follicularis
spinulosa decalvans, osteogenesis imperfecta 19 and IFAP (ichthyosis follicularis,
atrichia, and photophobia) syndrome 1 with or without BRESHECK (brain anomalies, retardation,
ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear/eye anomalies,
cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia) syndrome.;
NCI Metathesaurus CUI : CL1926470;
GenBank Accession Number : AF019612;
Origin ID : C203775;
UMLS CUI : C5890858;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_plays_role_in_process
