SERPINH1 Chromosome 11
Serpin family H member 1
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What This Gene Does
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
11q13.5
Ensembl
ENSG00000149257
Associated Conditions (5)
Osteogenesis imperfecta type 10
Osteogenesis imperfecta
Inborn genetic diseases
SERPINH1-related disorder
Preterm premature rupture of membranes
Key Variants
RS112083274
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta, Inborn genetic diseases
Health Risk
RS1232634716
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
Health Risk
RS138193444
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta, Osteogenesis imperfecta type 10
Health Risk
RS138241050
Conflicting classifications of pathogenicity
Health Risk
RS138784081
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
Health Risk
RS140588417
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, SERPINH1-related disorder, Osteogenesis imperfecta type 10
Health Risk
RS141721173
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Preterm premature rupture of membranes, SERPINH1-related disorder
Health Risk
RS150061926
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150586616
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
Health Risk
RS199548932
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
Health Risk
RS200265134
Conflicting classifications of pathogenicity
Health Risk
RS368586977
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112083274 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta, Inborn genetic diseases |
| RS1232634716 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS138193444 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta, Osteogenesis imperfecta type 10 |
| RS138241050 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138784081 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS140588417 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, SERPINH1-related disorder, Osteogenesis imperfecta type 10 |
| RS141721173 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Preterm premature rupture of membranes, SERPINH1-related disorder |
| RS150061926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150586616 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS199548932 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS200265134 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368586977 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS369937589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375913094 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, SERPINH1-related disorder, Osteogenesis imperfecta type 10 |
| RS376824871 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS540061657 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS541595707 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS544719966 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS550152153 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta, Osteogenesis imperfecta type 10 |
| RS61733248 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta, Osteogenesis imperfecta type 10 |
| RS749665611 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS760571465 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764723506 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS772433295 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS972547822 | Health Risk | Likely pathogenic | — |
| RS137853892 | Health Risk | Pathogenic | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS1565244847 | Health Risk | Pathogenic | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |
| RS2497012984 | Health Risk | Pathogenic | — |
| RS2497030405 | Health Risk | Pathogenic | — |
| RS77592601 | Health Risk | Pathogenic | Preterm premature rupture of membranes, Preterm premature rupture of membranes |
| RS886039819 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10 |