OSTM1 Chromosome 6
Osteoclastogenesis associated transmembrane protein 1
Upload your DNA to see your personal genotypes for variants in OSTM1.
What This Gene Does
This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Autosomal recessive osteopetrosis 5
OSTM1-related disorder
Inborn genetic diseases
Osteopetrosis
Key Variants
RS146289365
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
Health Risk
RS150309395
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
Health Risk
RS201176284
Conflicting classifications of pathogenicity
Health Risk
RS202093691
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, OSTM1-related disorder, Autosomal recessive osteopetrosis 5
Health Risk
RS542761263
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
Health Risk
RS546399681
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, Inborn genetic diseases, Autosomal recessive osteopetrosis 5
Health Risk
RS753191662
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
Health Risk
RS886060972
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
Health Risk
RS886060973
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 5, OSTM1-related disorder, Autosomal recessive osteopetrosis 5
Health Risk
RS201471142
Likely pathogenic
Health Risk
RS2482241906
Likely pathogenic
Osteopetrosis, Osteopetrosis
Health Risk
RS119460973
Pathogenic
Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146289365 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS150309395 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS201176284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202093691 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, OSTM1-related disorder, Autosomal recessive osteopetrosis 5 |
| RS542761263 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS546399681 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, Inborn genetic diseases, Autosomal recessive osteopetrosis 5 |
| RS753191662 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS886060972 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS886060973 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 5, OSTM1-related disorder, Autosomal recessive osteopetrosis 5 |
| RS201471142 | Health Risk | Likely pathogenic | — |
| RS2482241906 | Health Risk | Likely pathogenic | Osteopetrosis, Osteopetrosis |
| RS119460973 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS1256092775 | Health Risk | Pathogenic | — |
| RS1554250938 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS1562370077 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS1582396088 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS2114593143 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS2114606394 | Health Risk | Pathogenic | — |
| RS2114606433 | Health Risk | Pathogenic | — |
| RS2482181910 | Health Risk | Pathogenic | — |
| RS2482181938 | Health Risk | Pathogenic | — |
| RS2482208468 | Health Risk | Pathogenic | — |
| RS2482241074 | Health Risk | Pathogenic | — |
| RS2482241440 | Health Risk | Pathogenic | — |
| RS2482241461 | Health Risk | Pathogenic | — |
| RS752665241 | Health Risk | Pathogenic | — |
| RS761026137 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS778815348 | Health Risk | Pathogenic | — |
| RS781715787 | Health Risk | Pathogenic | — |
| RS794727287 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |
| RS995427170 | Health Risk | Pathogenic | — |
| RS752090052 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5 |