AP1B1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AP1B1 wild-type allele is located in the vicinity of 22q12.2 and is approximately 61 kb in length. This allele, which encodes AP-1 complex subunit beta-1 protein, is involved in intracellular protein sorting and organogenesis. Mutations in the gene are associated with autosomal recessive keratitis-ichthyosis-deafness syndrome.

**Synonyms:** - ADTB1 - AP105A - Adapter-Related Protein Complex 1 Subunit Beta-1 Gene - Adaptin, Beta-1 Gene - Adaptin, Beta-Prime Gene - Adaptor Related Protein Complex 1 Beta 1 Subunit Gene - Adaptor Related Protein Complex 1 Subunit Beta 1 wt Allele - Adaptor-Related Protein Complex 1, Beta-1 Subunit Gene - BAM22 - Beta-Adaptin-Meningioma Gene on Chromosome 22 Gene - Beta-Prime-Adaptin Gene; Beta1-Adaptin Gene - CLAPB2 - KIDAR - Plasma Membrane Adaptor HA2/AP2 Adaptor Beta Subunit Gene