ADAM10 Chromosome 15
ADAM metallopeptidase domain 10
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What This Gene Does
Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"ADAM metallopeptidase domain containing|CD molecules"
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000137845
Associated Conditions (3)
Corticobasal syndrome
Reticulate acropigmentation of Kitamura
Alzheimer disease 18
Key Variants
RS144890810
Conflicting classifications of pathogenicity
Corticobasal syndrome, Corticobasal syndrome
Health Risk
RS483352913
Pathogenic
Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
Health Risk
RS483352914
Pathogenic
Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
Health Risk
RS483352915
Pathogenic
Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
Health Risk
RS483352916
Pathogenic
Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura
Health Risk
RS145518263
risk factor
Alzheimer disease 18, Alzheimer disease 18
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144890810 | Health Risk | Conflicting classifications of pathogenicity | Corticobasal syndrome, Corticobasal syndrome |
| RS483352913 | Health Risk | Pathogenic | Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura |
| RS483352914 | Health Risk | Pathogenic | Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura |
| RS483352915 | Health Risk | Pathogenic | Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura |
| RS483352916 | Health Risk | Pathogenic | Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura |
| RS145518263 | Health Risk | risk factor | Alzheimer disease 18, Alzheimer disease 18 |