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GENATLAS PHENOTYPE |
last update : 19-06-2019 |
Symbol | MRD60 |
Location | 3q27.1 |
Name | mental retardation autosomal dominant 60 |
Other name(s) | Intellectual developmental disorder 60 with seizures |
Corresponding gene | AP2M1 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
Type | disease |
Remark(s) | . p.Arg170Trp AP2M1 variant not only affects the function of the mu-subunit, but also globally interferes with the thermodynamic stability of the AP-2 complex and, thereby, with the recognition of cargo membrane proteins (PMID: 31104773)) |