| Entrez Gene ID | 9581 |
|---|---|
| Official Gene Symbol | PREPL (GeneCards) |
| Full name | prolyl endopeptidase like |
| Location | 2p21 |
| Other ids | Vega : OTTHUMG00000152791 MIM : 609557 HGNC : HGNC:30228 Ensembl : ENSG00000138078 |
| Other names | CMS22 |
| Summary | The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1076 | 9581 | PREPL | 2 | 44550517 | 44550517 | Human Skin Fibroblasts | HiSeq 2500 |