| DNAJC6 | |
|---|---|
| Full Name | Auxilin-1 |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 98331 |
| OMIM | 613399 |
| UniProt ID | P07333 |
| Ensembl ID | ENSG00000138193 |
| Category | Molecular Chaperone |
The {symbol} gene encodes auxilin-1, a neuronal co-chaperone specifically involved in clathrin-mediated endocytosis. Auxilin recognizes clathrin-coated vesicles and recruits Hsc70 to facilitate clathrin cage disassembly. It contains a J-domain for Hsc70 interaction and a phosphoinositide-binding domain for membrane association. Beyond endocytosis, auxilin is involved in synaptic vesicle recycling and neuronal signaling.
DNAJC6 encodes auxilin-1, a neuronal co-chaperone specifically involved in clathrin-mediated endocytosis. Auxilin recruits Hsc70 to facilitate clathrin cage disassembly and is critical for synaptic vesicle recycling.
| Disease | Role in Disease |
|---|---|
| Parkinson's Disease | Recessive mutations cause early-onset Parkinsonism with impaired endocytosis |
| Early-Onset Parkinsonism | Leads to synaptic vesicle recycling deficits and dopaminergic neuron degeneration |
DNAJC6 is expressed almost exclusively in the brain, with highest expression in the substantia nigra, striatum, and hippocampus. It is localized to presynaptic terminals where clathrin-mediated endocytosis is highly active. Expression is neuron-specific.