APOO
apolipoprotein O
Summary
This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs267606421 | X:23,874,419 | C/A | — | uncertain significance |
| rs75916244 | X:23,874,484 | A/C | — | benign |
| rs1924785509 | X:23,874,492 | C/G | — | uncertain significance |
| rs750609010 | X:23,874,494 | A/G | — | likely benign |
| rs1925449605 | X:23,886,748 | A/G | — | pathogenic |
| rs1925984024 | X:23,897,045 | G/T | — | uncertain significance |
| rs373294515 | X:23,897,122 | T/C | — | likely benign |
| rs140548900 | X:23,897,136 | C/A | — | uncertain significance |
| rs16982839 | X:23,898,946 | A/G | — | benign |
| rs149224639 | X:23,898,976 | C/T | — | conflicting classifications of pathogenicity |
| rs200861085 | X:23,899,036 | T/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.