ADAM22 Chromosome 7
ADAM metallopeptidase domain 22
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What This Gene Does
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]
Gene Info
Gene Group
ADAM metallopeptidase domain containing
Locus Type
gene with protein product
Location
7q21.12
Ensembl
ENSG00000008277
Associated Conditions (3)
Developmental and epileptic encephalopathy
61
ADAM22-related disorder
Key Variants
RS1838987290
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
RS1303434565
Likely pathogenic
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
RS1842129329
Likely pathogenic
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
RS760686398
Likely pathogenic
ADAM22-related disorder, ADAM22-related disorder
Health Risk
RS1262642807
Pathogenic
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
RS1554519462
Pathogenic
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
RS2536800069
Pathogenic
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
RS747259064
Pathogenic
Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1838987290 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |
| RS1303434565 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |
| RS1842129329 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |
| RS760686398 | Health Risk | Likely pathogenic | ADAM22-related disorder, ADAM22-related disorder |
| RS1262642807 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |
| RS1554519462 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |
| RS2536800069 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |
| RS747259064 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 61, Developmental and epileptic encephalopathy |