MYO18B wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MYO18B wild-type allele is located in the vicinity of 22q12.1 and is approximately 322 kb in length. This allele, which encodes unconventional myosin-XVIIIb protein, plays a role in protein localization and the regulation of gene expression in myocytes. Mutations in the gene are associated with autosomal recessive Klippel-Feil syndrome 4 with nemaline myopathy and facial dysmorphism.

**Synonyms:** - BK125H2.1 - KFS4 - Myosin 18B Gene - Myosin XVIIIB wt Allele