MBTPS2 Chromosome X
Membrane bound transcription factor peptidase, site 2
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What This Gene Does
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Associated Conditions (10)
Inborn genetic diseases
MBTPS2-related disorder
Skeletal dysplasia
Keratosis follicularis spinulosa decalvans
X-linked
Osteogenesis imperfecta
type 19
Olmsted syndrome
IFAP syndrome 1
with or without BRESHECK syndrome
Key Variants
RS149889191
Conflicting classifications of pathogenicity
Inborn genetic diseases, MBTPS2-related disorder, Skeletal dysplasia
Health Risk
RS199974151
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2519561020
Conflicting classifications of pathogenicity
Keratosis follicularis spinulosa decalvans, X-linked, Osteogenesis imperfecta
Health Risk
RS369520528
Conflicting classifications of pathogenicity
Health Risk
RS373607391
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748678625
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751755276
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS762761040
Conflicting classifications of pathogenicity
Health Risk
RS764440472
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS769260473
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1085307977
Likely pathogenic
Health Risk
RS587776867
Likely pathogenic
Keratosis follicularis spinulosa decalvans, X-linked, Keratosis follicularis spinulosa decalvans
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149889191 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MBTPS2-related disorder, Skeletal dysplasia |
| RS199974151 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2519561020 | Health Risk | Conflicting classifications of pathogenicity | Keratosis follicularis spinulosa decalvans, X-linked, Osteogenesis imperfecta |
| RS369520528 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373607391 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748678625 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751755276 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS762761040 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764440472 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769260473 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1085307977 | Health Risk | Likely pathogenic | — |
| RS587776867 | Health Risk | Likely pathogenic | Keratosis follicularis spinulosa decalvans, X-linked, Keratosis follicularis spinulosa decalvans |
| RS122468176 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 1 |
| RS122468177 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 1 |
| RS122468178 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 1 |
| RS122468179 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 1 |
| RS122468180 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 1 |
| RS1555986267 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 19, Osteogenesis imperfecta |
| RS1555986287 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 19, Osteogenesis imperfecta |
| RS2147447747 | Health Risk | Pathogenic | — |
| RS587777305 | Health Risk | Pathogenic | IFAP syndrome 1, with or without BRESHECK syndrome, IFAP syndrome 1 |
| RS587777306 | Health Risk | Pathogenic | Olmsted syndrome, X-linked, Olmsted syndrome |
| RS2147456007 | Health Risk | Pathogenic/Likely pathogenic | — |