Gene: STXBP5L

Alternate names for this Gene: LLGL4

Gene Summary: The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents.

Gene is located in Chromosome: 3

Location in Chromosome : 3q13.33

Description of this Gene: syntaxin binding protein 5 like

Type of Gene: protein-coding