GENE NAME | DCHS1 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000166341 |
ENTREZ ID | 8642 |
UNIPROT ACCESSION NUMBER | Q96JQ0 |
GO MOLECULAR FUNCTION | cadherin binding; calcium ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04392 |
5 combinations linked to DCHS1 | OLI697; OLI707; OLI692; OLI740; OLI701 |
5 variants linked to DCHS1 | DCHS1:c.3158G>C, p.Trp1053Ser; DCHS1:c.4072G>A, p.Glu1358Lys; DCHS1:c.5866C>T, p.His1956Tyr; DCHS1:c.7384C>T, p.Arg2462Trp; DCHS1:c.4898A>G, p.Gln1633Arg |
2 diseases linked to DCHS1 | Isolated anencephaly; Craniorachischisis |