CTNS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CTNS wild-type allele is located in the vicinity of 17p13.2 and is approximately 27 kb in length. This allele, which encodes cystinosin protein, plays a role in cystine/proton symport. Mutation of the gene is associated with multiple forms nephropathic cystinosis including the atypical, the ocular and the late-onset juvenile or adolescent forms.

**Synonyms:** - CTNS-LSB - Cystinosin, Lysosomal Cystine Transporter wt Allele - Cystinosis Nephropathic Gene - Cystinosis, Nephropathic Gene - PQLC4 - SLC66A4