SHANK3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SHANK3 wild-type allele is located in the vicinity of 22q13.3 and is approximately 59 kb in length. This allele, which encodes SH3 and multiple ankyrin repeat domains protein 3, may play a role in neuronal function. Mutations in this gene are associated with 22q telomere deletion syndrome.

**Synonyms:** - DEL22q13.3 - KIAA1650 - PROSAP2 - PSAP2 - SCZD15 - SH3 and Multiple Ankyrin Repeat Domains 3 wt Allele - SPANK-2