CLN5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CLN5 wild-type allele is located in the vicinity of 13q22.3 and is approximately 28 kb in length. This allele, which encodes ceroid-lipofuscinosis neuronal protein 5, plays a role in localization of proteins to the lysosome. Nonsense and missense mutations in the gene are associated with neuronal ceroid lipofuscinosis type 5.

**Synonyms:** - CLN5 Intracellular Trafficking Protein wt Allele - CLN5, Intracellular Trafficking Protein Gene - Ceroid-Lipofuscinosis, Neuronal 5 Gene