AP4S1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AP4S1 wild-type allele is located in the vicinity of 14q12 and is approximately 106 kb in length. This allele, which encodes AP-4 complex subunit sigma-1 protein, plays a role in coated vesicle formation and cargo selection. Mutations in the gene are associated with autosomal recessive spastic paraplegia 52.

**Synonyms:** - AP-4 Adapter Complex Subunit Sigma-1 Gene - AP47B - Adaptor Related Protein Complex 4 Sigma 1 Subunit Gene - Adaptor-Related Protein Complex 4, Sigma-1 Subunit Gene - CLA20 - CLAPS4 - CPSQ6 - Clathrin-Associated/Assembly/Adaptor Protein, Sigma Gene - SPG52