GENE NAME | SNX13 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000071189 |
ENTREZ ID | 23161 |
UNIPROT ACCESSION NUMBER | Q9Y5W8 |
GO MOLECULAR FUNCTION | phosphatidylinositol binding; lipid binding; phosphatidylinositol-3-phosphate binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
3 combinations linked to SNX13 | OLI763; OLI724; OLI758 |
3 variants linked to SNX13 | SNX13:c.637G>T, p.Val213Leu; SNX13:c.1142A>G, p.Asn381Ser; SNX13:c.709C>T, p.Pro237Ser |
1 disease linked to SNX13 | Isolated anencephaly |