KLHL40 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KLHL40 wild-type allele is located in the vicinity of 3p22.1 and is approximately 7 kb in length. This allele, which encodes kelch-like protein 40, is involved in targeting proteins for ubiquitination and degradation. Mutation of the gene is associated with nemaline myopathy 8.

**Synonyms:** - KBTBD5 - Kelch Like Family Member 40 wt Allele - Kelch Repeat and BTB (POZ) Domain Containing 5 Gene - Kelch-Like 40 (Drosophila) Gene - Kelch-Like 40 Gene - NEM8 - Nemaline Myopathy Type 8 Gene - SRYP - SYRP