DISEASES

Disease-gene associations mined from literature

Literature associating SMCHD1 and microphthalmia

SMCHD1 [ENSP00000326603]

Structural maintenance of chromosomes flexible hinge domain-containing protein 1; Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells.

Synonyms:  SMCHD1,  SMCHD1p,  hSMCHD1,  A6NHR9,  J3KTL8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM