| DNAJC5 | |
|---|---|
| Full Name | Cysteine String Protein (CSP) |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 80317 |
| OMIM | 611486 |
| UniProt ID | Q9H3K2 |
| Ensembl ID | ENSG00000138942 |
| Category | Molecular Chaperone |
The {symbol} gene encodes cysteine string protein (CSP), a synaptic vesicle co-chaperone that partners with Hsc70 to facilitate synaptic vesicle cycling. CSP contains a J-domain for Hsc70 interaction and a cysteine-rich string that can bind zinc ions. At the synapse, CSP is essential for synaptic vesicle regeneration, neurotransmitter release, and synaptic maintenance. It helps fold synaptic proteins and protects against endoplasmic reticulum stress.
DNAJC5 encodes cysteine string protein (CSP), a synaptic vesicle co-chaperone that partners with Hsc70 to facilitate synaptic vesicle cycling. Essential for synaptic vesicle regeneration, neurotransmitter release, and synaptic maintenance.
| Disease | Role in Disease |
|---|---|
| Neuronal Ceroid Lipofuscinosis | DNAJC5 mutations cause adult-onset ANCL with lysosomal storage abnormalities |
| Alzheimer's Disease | Altered CSP levels in affected brain regions |
DNAJC5 is expressed predominantly in neurons, particularly in the forebrain including hippocampus, cortex, and basal ganglia. It is localized to synaptic vesicles and is highly enriched in presynaptic terminals. Expression is relatively stable but can be modulated by neuronal activity and stress.