| Interacting proteins: P12694 and P21953 |
Pubmed |
SVM Score :0.0 |
| Mutations in the human BCKD genes E1alpha ( BCKDHA ) , E1beta ( BCKDHB ) and E 2 ( DBT ) are known to result in MSUD , referred to as type Ia , Ib and 2 mutations respectively . ^^^ |
|
| Interacting proteins: P12694 and P21953 |
Pubmed |
SVM Score :0.0 |
| Mutations in any of the three different genes BCKDHA , BCKDHB , and DBT encoding for the E1alpha , E1beta , and E 2 catalytic components of the branched chain alpha ketoacid dehydrogenase ( BCKD ) complex can cause maple syrup urine disease ( MSUD ) . ^^^ Based on complementation testing , we selected 15 patients as defective in E1beta , 10 in E1alpha , seven in E2l ; one remains unclassified . 92 . 5 % of alleles have been characterized , and the mutational spectrum includes 36 different sequence variations presumably leading to loss of function , 15 changes in the BCKDHA , 14 in the BCKDHB , and seven in the DBT genes . ^^^ |
|
| Interacting proteins: P12694 and P21953 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P12694 and P21953 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P21953 and P12694 |
Pubmed |
SVM Score :0.0 |
| Mutations in the human BCKD genes E1alpha ( BCKDHA ) , E1beta ( BCKDHB ) and E 2 ( DBT ) are known to result in MSUD , referred to as type Ia , Ib and 2 mutations respectively . ^^^ |
|
| Interacting proteins: P21953 and P12694 |
Pubmed |
SVM Score :0.0 |
| Mutations in any of the three different genes BCKDHA , BCKDHB , and DBT encoding for the E1alpha , E1beta , and E 2 catalytic components of the branched chain alpha ketoacid dehydrogenase ( BCKD ) complex can cause maple syrup urine disease ( MSUD ) . ^^^ Based on complementation testing , we selected 15 patients as defective in E1beta , 10 in E1alpha , seven in E2l ; one remains unclassified . 92 . 5 % of alleles have been characterized , and the mutational spectrum includes 36 different sequence variations presumably leading to loss of function , 15 changes in the BCKDHA , 14 in the BCKDHB , and seven in the DBT genes . ^^^ |
|
| Interacting proteins: P21953 and P12694 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P21953 and P12694 |
Pubmed |
SVM Score :0.0 |
| NA |
|