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Details of DAG1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| DAG1 | --- | Q14118 | DAG1_HUMAN | 1605
| ENSG00000173402
| Dystroglycan
Alpha-dystroglycan
Beta-dystroglycan | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:613818]: An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. MDDGC7 is caused by DAG1 mutations that interfere with normal post-translational processing, resulting in defective DAG1 glycosylation and impaired interactions with extracellular-matrix components. Other muscular dystrophy-dystroglycanopathies are caused by defects in enzymes involved in protein O-glycosylation. |
613818 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
