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GENATLAS PHENOTYPE |
last update : 21/08/2006 |
Symbol | MSUD1A | |||
Location | 19q13.2 | |||
Name | maple syrup urine disease, classic form | |||
Corresponding gene | BCKDHA | |||
Main clinical features |
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Genetic determination
Function/system disorder
| metabolism/aminoacids | Type
| disease
| |
Gene product |
Name | branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| under-expression
| less than a dozen of single mutations currently described
| frameshift
| deletion
|  
|  
| |
Remark(s) |