MBTPS2 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - BRESEK - IFAP - KFSD - KFSDX - Keratosis Follicularis Spinulosa Decalvans Gene - Membrane Bound Transcription Factor Peptidase, Site 2 wt Allele - Membrane-Bound Transcription Factor Protease, Site 2 Gene - OI19 - OLMSX - S2P - Site-2 Protease Gene