TBC1D2B wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TBC1D2B wild-type allele is located within 15q24.3-q25.1 and is approximately 94 kb in length. This allele, which encodes TBC1 domain family member 2B protein, is involved in the early steps of endocytosis. Mutation of the gene is associated with neurodevelopmental disorder with seizures and gingival overgrowth.

**Synonyms:** - KIAA1055 - NEDSGO - TBC1 Domain Family Member 2B wt Allele - TBC1 Domain Family, Member 2B Gene