STXBP2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human STXBP2 wild-type allele is located within 19p13.3-p13.2 and is approximately 11 kb in length. This allele, which encodes syntaxin-binding protein 2, plays a role in intracellular vesicle trafficking and vesicle fusion with membranes. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 5.

**Synonyms:** - FHL5 - FHL5 / MUNC18-2 (STXBP2) - Hunc18b - MUNC18-2 - Syntaxin Binding Protein 2 wt Allele - UNC18, C. elegans, Homolog of, 2 Gene - UNC18-2 - UNC18B - pp10122 - unc-18B