| Entrez Gene ID | 5858 |
|---|---|
| Official Gene Symbol | PZP (GeneCards) |
| Full name | PZP, alpha-2-macroglobulin like |
| Location | 12p13.31 |
| Other ids | Vega : OTTHUMG00000154915 MIM : 176420 HGNC : HGNC:9750 Ensembl : ENSG00000126838 |
| Other names | CPAMD6 |
| Summary | The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1021 | 5858 | PZP | 12 | 9355195 | 9355195 | Human Skin Fibroblasts | HiSeq 2500 |
| 27567 | 5858 | PZP | 12 | 9354985 | 9354985 | Asymptomatic | HiSeq 2500 Single cell Sequencing Cell cloning |
| 29300 | 5858 | PZP | 12 | 9345317 | 9345317 | Autism Spectrum Disorders | HiSeq 2500 Single cell Sequencing Cell cloning PASM |