| Gene Symbol | ent-gene-f7979b3d |
| Subcellular Localization | lysosomes through its multiple transmembrane domains[@matsui2009]. The protein contains ten predicted transmembrane heli |
| Complete loss of transport activity | Mutations in critical residues required for cation binding or ATP hydrolysis abolish enzymatic function |
| Trafficking defects | Mutations that disrupt proper folding or sorting cause retention in the endoplasmic reticulum and degradation |
| Protein instability | Some mutations result in reduced protein stability and accelerated degradation |
| Mislocalization | Certain mutations cause inappropriate localization to cellular compartments where function is impaired |
| KG Connections | 3 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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