AP4B1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AP4B1 wild-type allele is located in the vicinity of 1p13.2 and is approximately 11 kb in length. This allele, which encodes AP-4 complex subunit beta-1 protein, plays a role in vesicle-mediated protein trafficking. Mutation of the gene is associated with autosomal recessive spastic paraplegia 47.

**Synonyms:** - Adaptor Related Protein Complex 4 Subunit Beta 1 wt Allele - Adaptor-Related Protein Complex 4, Beta-1 Subunit Gene - BETA-4 - CPSQ5 - SPG47 - Spastic Paraplegia 47 Gene