SMCHD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SMCHD1 wild-type allele is located in the vicinity of 18p11.32 and is approximately 149 kb in length. This allele, which encodes structural maintenance of chromosomes flexible hinge domain-containing protein 1, plays a role in heterochromatin formation, DNA repair, epigenetic silencing and ATPase activity. Mutations in the gene are associated with Bosma arhinia microphthalmia syndrome and digenic facioscapulohumeral muscular dystrophy 2.

**Synonyms:** - BAMS - FSHD2 - KIAA0650 - Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 wt Allele