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 |