| Gene Symbol | NPC2 |
| Full Name | NPC intracellular cholesterol transporter 2 |
| Chromosome | 14q11.2 |
| Function | NPC2 encodes a small lysosomal cholesterol transport protein (Niemann-Pick disease, type C2). |
| Amino Acids | 151 aa |
| Pathways | Cholesterol |
| UniProt ID | O15148 |
| NCBI Gene ID | 10577 |
| Ensembl ID | ENSG00000119655 |
| OMIM | 607015 |
| GeneCards | NPC2 |
| Human Protein Atlas | NPC2 |
| Phenotype | Features |
| Childhood-onset | Hepatosplenomegaly, neurological deterioration |
| Adult-onset | Psychiatric symptoms, ataxia |
| Associated Diseases | Als, Diabetes, Parkinson's disease, Type 2 Diabetes, disease, frontotemporal dementia |
| Interactions | TREM2, TFEB, Actin, APOE, PLIN2, SOAT1 |
| KG Connections | 44 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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