Details for Gene ABCA7

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

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