PACS2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PACS2 wild-type allele is located in the vicinity of 14q32.33 and is approximately 98 kb in length. This allele, which encodes phosphofurin acidic cluster sorting protein 2, is involved in intracellular localization of proteins and calcium ions. Mutations in the gene are associated with developmental and epileptic encephalopathy 66.

**Synonyms:** - DEE66 - EIEE66 - KIAA0602 - PACS-2 - PACS1L - Phosphofurin Acidic Cluster Sorting Protein 1-Like Gene - Phosphofurin Acidic Cluster Sorting Protein 2 wt Allele