AMER1 Chromosome X
APC membrane recruitment protein 1
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What This Gene Does
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
Gene Info
Gene Group
APC membrane recruitment proteins
Locus Type
gene with protein product
Location
Xq11.2
Ensembl
ENSG00000184675
Associated Conditions (6)
AMER1-related disorder
Inborn genetic diseases
Osteopathia striata with cranial sclerosis
Colorectal cancer
Neoplasm
Cleft palate
Key Variants
RS1233790837
Conflicting classifications of pathogenicity
AMER1-related disorder, Inborn genetic diseases, AMER1-related disorder
Health Risk
RS138399473
Conflicting classifications of pathogenicity
Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
Health Risk
RS140299861
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1435543004
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1930286519
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201053898
Conflicting classifications of pathogenicity
Inborn genetic diseases, Osteopathia striata with cranial sclerosis, Inborn genetic diseases
Health Risk
RS201965033
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202069335
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369116388
Conflicting classifications of pathogenicity
Osteopathia striata with cranial sclerosis, Inborn genetic diseases, Osteopathia striata with cranial sclerosis
Health Risk
RS372769953
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373710390
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374729339
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2521226623 | Health Risk | Pathogenic | — |
| RS387906722 | Health Risk | Pathogenic | Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis |
| RS387907269 | Health Risk | Pathogenic | Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis |
| RS398122877 | Health Risk | Pathogenic | Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis |
| RS886039672 | Health Risk | Pathogenic | — |
| RS1602067592 | Health Risk | Pathogenic/Likely pathogenic | Cleft palate, Cleft palate |
| RS1930251154 | Health Risk | Pathogenic/Likely pathogenic | Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis |