NEB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NEB wild-type allele is located in the vicinity of 2q23.3 and is approximately 249 kb in length. This allele, which encodes nebulin protein, plays a role in muscle cell development and sarcomere maintenance. Mutations in the gene are associated with arthrogryposis multiplex congenita 6 and autosomal recessive nemaline myopathy 2.

**Synonyms:** - AMC6 - NEB177D - NEM2 - Nebulin wt Allele - Nemaline Myopathy Type 2 Gene