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GENATLAS PHENOTYPE |
last update : 24-06-2014 |
Symbol | MRT2A |
Location | 3p26.2 |
Name | mental retardation, 2A |
Corresponding gene | CRBN |
Other symbol(s) | ARNSMR1, MRAR1, MRNS1 |
Main clinical features | non-syndromic, mild mental retardation, associated with an IQ between 50 and 70 |
Genetic determination | autosomal recessive |
Function/system disorder | mental retardation |
Type | disease |
Gene product |
Name | ATP-dependent Lon protease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
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| interrupting an N-myristoylation site and eliminating a casein kinase II phosphorylation site at the C terminus
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Remark(s) |
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