Details for Gene STARD3

GENE NAME STARD3
CHROMOSOME 17
ENSEMBL ID ENSG00000131748
ENTREZ ID 10948
UNIPROT ACCESSION NUMBER Q14849
GO MOLECULAR FUNCTION protein homodimerization activity; cholesterol binding; protein binding; cholesterol transfer activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1430728; R-HSA-196071; R-HSA-556833; hsa04979; R-HSA-196108; R-HSA-8957322
1 combination linked to STARD3 OLI1072
1 variant linked to STARD3 STARD3:c.740C>T, p.Ala247Val
2 diseases linked to STARD3 46,XY disorder of sex development; Rare congenital non-syndromic heart malformation

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