| Gene Symbol | ent-gene-3f9d72d2 |
| Neuronal survival | Phosphorylates pro-apoptotic proteins (BAD, FOXO) |
| Brain development | Regulates brain size through mTOR signaling |
| Myelination | Essential for oligodendrocyte differentiation and myelination |
| Synaptic plasticity | Modulates AMPA receptor trafficking |
| Metabolism | Regulates glucose uptake in neurons |
| Angiogenesis | Controls blood-brain barrier formation |
| Cell growth | mTORC1 activation drives protein synthesis |
| Inheritance | Autosomal dominant (de novo) |
| Clinical features | Progressive megalencephaly, cutaneous capillary malformations |
| Neurological | Developmental delay, seizures, Chiari malformation |
| Other | Polydactyly, connective tissue abnormalities |
| Somatic mosaicism | Postzygotic mutation |
| Asymmetric overgrowth | Body parts disproportionately enlarged |
| Cerebellar cysts | Characteristic finding |
| Connective tissue nevi | Epidermal nevi |
| KG Connections | 4 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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