GENE NAME | DLC1 |
CHROMOSOME | 8 |
ENSEMBL ID | ENSG00000164741 |
ENTREZ ID | 10395 |
UNIPROT ACCESSION NUMBER | Q96QB1 |
GO MOLECULAR FUNCTION | GTPase activator activity; lipid binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-194315; R-HSA-194840; R-HSA-162582 |
4 combinations linked to DLC1 | OLI762; OLI699; OLI748; OLI757 |
4 variants linked to DLC1 | DLC1:c.1697C>A, p.Ser566Tyr; DLC1:c.3895G>A, p.Glu1299Lys; DLC1:c.4007T>G, p.Val1336Gly; DLC1:c.3551A>T, p.Gln1184Leu |
1 disease linked to DLC1 | Isolated anencephaly |