| Gene ID | 11315 |
| Symbol | PARK7 |
| Synonymous | DJ-1|DJ1|HEL-S-67p |
| Full name | parkinson protein 7 |
| Gene description | Parkinson disease (autosomal recessive, early onset) 7|epididymis secretory sperm binding protein Li 67p|oncogene DJ1|protein DJ-1|protein deglycase DJ-1 |
| Cytoband | 1p36.23 |
| Gene type | protein-coding |
| Synonymous | MIM:602533; HGNC:HGNC:16369; Ensembl:ENSG00000116288; HPRD:03961; Vega:OTTHUMG00000001210 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.143G>A; p.R48H; 1:7965376-7965376 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |