GENE NAME | ABCA7 |
CHROMOSOME | 19 |
ENSEMBL ID | ENSG00000064687 |
ENTREZ ID | 10347 |
UNIPROT ACCESSION NUMBER | Q8IZY2 |
GO MOLECULAR FUNCTION | apolipoprotein A-I receptor activity; phosphatidylserine floppase activity; phosphatidylcholine floppase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa02010; R-HSA-1369062; R-HSA-382556; R-HSA-382551 |
3 combinations linked to ABCA7 | OLI787; OLI799; OLI788 |
3 variants linked to ABCA7 | ABCA7:c.5092C>T, p.Arg1698Trp; ABCA7:c.3076C>T, p.Arg1026Cys; ABCA7:c.4045C>T, p.Arg1349Trp |
1 disease linked to ABCA7 | Arthrogryposis syndrome |