APOA1
| GENE INFORMATIONi | |
|---|---|
| Gene name | APOA1 |
| Synonyms | |
| Description | Apolipoprotein A1 (HGNC Symbol) |
| Entrez gene summary | This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015] |
| Chromosome | 11 |
| Cytoband | q23.3 |
| Chromosome location (bp) | 116835751 - 116837950 |
| Protein evidence | Evidence at protein level (all genes) |
| Ensembl | ENSG00000118137 (version 88.38) |
| Entrez gene | 335 |
| UniProt | P02647 (UniProt - Evidence at protein level) |
| neXtProt | NX_P02647 |
| Antibodypedia | APOA1 antibodies |