Protein Domain : Structural maintenance of chromosomes flexible hinge domain-containing protein 1 IPR038892

Type  Family
Description  SMCHD1 plays roles in X-chromosome inactivation, imprinting and double-strand break repair. Mutations in the SMCHD1 gene have been linked to Facioscapulohumeral dystrophy. Its N-terminal half contains a GHKL (gyrase, Hsp90, histidine kinase, MutL) ATPase motif, whereas its C terminus contains an SMC (structural maintenance of chromosomes) domain homologous to that found in cohesins and condensins, which has DNA-binding activity and provides an interface for homodimerization [ ].
Short Name  SMCHD1

0 Child Features

0 Gene Families

0 Genes

1 Ontology Annotations

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