SAA1
serum amyloid A1
Summary
This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Jul 2020]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139332456 | 11:18,288,513 | G/A | — | uncertain significance |
| rs183978373 | 11:18,290,358 | C/G | — | — |
| rs11024597 | 11:18,290,737 | T/G | — | benign |
| rs900843725 | 11:18,290,819 | C/T | — | uncertain significance |
| rs748089864 | 11:18,290,820 | G/A | — | uncertain significance |
| rs1301089150 | 11:18,290,832 | A/T | — | uncertain significance |
| rs1354927195 | 11:18,290,849 | C/T | — | uncertain significance |
| rs1136743 | 11:18,290,859 | C/T | missense variant | pathogenic |
| rs1136745 | 11:18,290,866 | T/C | — | likely benign |
| rs776035778 | 11:18,290,872 | A/C | — | uncertain significance |
| rs1136747 | 11:18,290,874 | T/C | missense variant | benign |
| rs35179000 | 11:18,290,903 | T/C | downstream gene variant | — |
| rs1059559 | 11:18,291,289 | T/C | missense variant | likely benign |
| rs144465925 | 11:18,291,292 | T/A | — | likely benign |
| rs1059560 | 11:18,291,293 | T/C | — | likely benign |
| rs573855702 | 11:18,291,294 | T/A | — | likely benign |
| rs79681911 | 11:18,291,302 | G/A | missense variant | pathogenic |
| rs12218 | 11:18,291,321 | T/C | synonymous variant | — |
| rs1858167355 | 11:18,291,329 | C/G | — | uncertain significance |
| rs2494282179 | 11:18,291,342 | G/C | — | uncertain significance |
| rs2494282315 | 11:18,291,365 | A/G | — | uncertain significance |
| rs767154283 | 11:18,291,374 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.