PZP
PZP alpha-2-macroglobulin like
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]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1272888644 | 12:9,303,282 | A/G | — | likely benign |
| rs2498501020 | 12:9,303,323 | C/T | — | uncertain significance |
| rs142910912 | 12:9,304,232 | T/A | — | uncertain significance |
| rs780730863 | 12:9,304,858 | C/A | — | uncertain significance |
| rs2498518220 | 12:9,305,444 | C/T | — | uncertain significance |
| rs773363271 | 12:9,305,799 | T/G | — | uncertain significance |
| rs140218967 | 12:9,305,833 | G/A | — | uncertain significance |
| rs367992837 | 12:9,307,252 | A/G | — | likely benign |
| rs755150104 | 12:9,307,340 | A/T | — | uncertain significance |
| rs181999391 | 12:9,307,387 | C/G | — | uncertain significance |
| rs372875977 | 12:9,307,427 | C/T | — | likely benign |
| rs757674544 | 12:9,309,804 | G/T | — | uncertain significance |
| rs35095552 | 12:9,309,886 | G/A | — | likely benign |
| rs200477595 | 12:9,309,938 | C/T | — | uncertain significance |
| rs773534801 | 12:9,310,403 | T/C | — | uncertain significance |
| rs766749252 | 12:9,310,407 | C/T | — | no classification for the single variant |
| rs35040316 | 12:9,311,025 | A/G | — | benign |
| rs753574374 | 12:9,311,056 | C/T | — | uncertain significance |
| rs2498571138 | 12:9,311,114 | C/T | — | uncertain significance |
| rs2498592635 | 12:9,312,976 | A/T | — | uncertain significance |
| rs773000598 | 12:9,313,056 | A/G | — | uncertain significance |
| rs1308335744 | 12:9,313,057 | T/C | — | uncertain significance |
| rs762184020 | 12:9,315,243 | G/A | — | uncertain significance |
| rs1276867351 | 12:9,316,363 | A/T | — | uncertain significance |
| rs1941415775 | 12:9,316,741 | G/T | — | uncertain significance |
| rs1356407666 | 12:9,316,815 | G/A | — | uncertain significance |
| rs758372558 | 12:9,316,850 | A/C | — | uncertain significance |
| rs748667548 | 12:9,317,793 | C/T | — | uncertain significance |
| rs2277412 | 12:9,317,885 | G/A | — | benign |
| rs141699672 | 12:9,317,889 | A/G | — | uncertain significance |
| rs142433677 | 12:9,317,902 | C/T | — | uncertain significance |
| rs772015449 | 12:9,317,914 | C/T | — | uncertain significance |
| rs753285276 | 12:9,318,657 | A/G | — | uncertain significance |
| rs751724709 | 12:9,318,688 | A/C | — | uncertain significance |
| rs2498662698 | 12:9,318,711 | G/A | — | uncertain significance |
| rs201209570 | 12:9,321,489 | C/G | — | uncertain significance |
| rs1769959421 | 12:9,321,512 | A/T | — | uncertain significance |
| rs145240281 | 12:9,321,534 | G/A | — | likely benign |
| rs2498693157 | 12:9,322,156 | G/A | — | uncertain significance |
| rs765795584 | 12:9,333,598 | G/A | — | uncertain significance |
| rs1301407058 | 12:9,333,650 | G/T | — | uncertain significance |
| rs777368214 | 12:9,333,665 | C/G | — | uncertain significance |
| rs150168839 | 12:9,333,668 | C/T | — | likely benign |
| rs16918152 | 12:9,334,595 | C/T | — | benign |
| rs188078627 | 12:9,334,698 | G/A | — | uncertain significance |
| rs141993038 | 12:9,338,466 | T/C | — | — |
| rs777564969 | 12:9,344,801 | C/G | — | uncertain significance |
| rs796052146 | 12:9,344,831 | C/T | — | no classification for the single variant |
| rs142132513 | 12:9,344,832 | G/A | — | likely benign |
| rs1468793471 | 12:9,344,843 | T/G | — | uncertain significance |
| rs763757326 | 12:9,345,116 | G/A | — | likely benign |
| rs199809522 | 12:9,345,121 | C/A | — | uncertain significance |
| rs140140094 | 12:9,345,229 | T/G | — | benign |
| rs368975876 | 12:9,345,253 | C/T | — | likely benign |
| rs1427836102 | 12:9,345,279 | G/T | — | uncertain significance |
| rs2498878860 | 12:9,345,283 | T/C | — | uncertain significance |
| rs570655848 | 12:9,346,711 | T/C | — | likely benign |
| rs751848034 | 12:9,346,726 | C/G | — | uncertain significance |
| rs757606773 | 12:9,346,731 | C/A | — | uncertain significance |
| rs769687240 | 12:9,348,941 | G/C | — | uncertain significance |
| rs1437369123 | 12:9,349,212 | C/G | — | uncertain significance |
| rs1255298752 | 12:9,349,246 | G/C | — | uncertain significance |
| rs147532348 | 12:9,349,598 | G/A | — | benign |
| rs781433904 | 12:9,349,616 | T/A | — | uncertain significance |
| rs59948620 | 12:9,349,710 | A/G | — | benign |
| rs142990157 | 12:9,352,978 | T/C | — | uncertain significance |
| rs1463798670 | 12:9,352,991 | C/G | — | uncertain significance |
| rs753038477 | 12:9,352,993 | A/G | — | uncertain significance |
| rs752056428 | 12:9,353,500 | C/T | — | uncertain significance |
| rs150116909 | 12:9,353,537 | C/G | — | uncertain significance |
| rs373481261 | 12:9,353,939 | G/T | — | uncertain significance |
| rs377706010 | 12:9,354,958 | C/T | — | uncertain significance |
| rs140089121 | 12:9,355,206 | C/T | — | likely benign |
| rs368446783 | 12:9,356,397 | C/T | — | likely benign |
| rs374315168 | 12:9,356,419 | C/T | — | uncertain significance |
| rs1204122338 | 12:9,356,503 | G/A | — | uncertain significance |
| rs377732423 | 12:9,360,868 | T/C | — | likely benign |
| rs1035849 | 12:9,362,168 | T/C | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.