| GENE NAME | SMCHD1 |
| CHROMOSOME | 18 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000101596 |
| UNIPROT ACCESSION NUMBER | A6NHR9 |
| GO MOLECULAR FUNCTION | ['ATP hydrolysis activity', 'ATP binding', 'DNA binding', 'protein binding', 'protein homodimerization activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | |
| 6 combinations linked to SMCHD1 | OLI1394; OLI1384; OLI1412; OLI1407; OLI051; OLI1417 |
| 6 variants linked to SMCHD1 | SMCHD1:c.5150_5151del, p.Lys1717fs; SMCHD1:c.35C>A, p.Ala12Asp; SMCHD1:c.3106G>A, p.Val1036Ile; SMCHD1:c.1804A>G, p.Ile602Val; SMCHD1:c.1049A>T, p.Tyr350Phe; SMCHD1:c.1571A>G, p.Asn524Ser |
| 3 diseases linked to SMCHD1 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Facioscapulohumeral dystrophy |