| Gene Symbol | DYSTROPHIN |
| Aliases | DYSTROPHINPROTEIN |
| Function | Dystrophin is a large cytoskeletal protein critical for muscle fiber stability and function. |
| Molecular Weight | 427 kDa |
| GeneCards | DYSTROPHIN |
| Human Protein Atlas | DYSTROPHIN |
| N-terminal domain (1-246 aa) | Actin-binding domain that connects to the cytoskeletal actin filament network. Contains two calponin homology domains critical for F-actin binding. |
| Central rod domain (247-3044 aa) | Contains 24 spectrin-like repeats and 4 hinge regions, providing flexibility and serving as a spring-like shock absorber during muscle contraction. |
| Cysteine-rich domain (3045-3110 aa) | Binds to β-dystroglycan, anchoring the protein to the dystrophin-associated glycoprotein complex (DGC). |
| C-terminal domain (3111-3685 aa) | Interacts with syntrophins and dystrobrevin, forming the core of the signaling complex. |
| Dp427 (full-length muscle/brain) | 427 kDa, predominant in skeletal muscle and cortical neurons |
| Dp140 (brain isoform) | 140 kDa, predominantly expressed in brain, particularly in kidney and brain microvasculature |
| Dp71 (brain isoform) | 71 kDa, the smallest dystrophin isoform, highly expressed in brain and glia |
| Dp116 (peripheral nerve) | Expressed in Schwann cells |
| Dp40 | Smallest isoform, conserved function across species |
| Associated Diseases | disease |
| Interactions | GAD1, MAP |
| KG Connections | 5 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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