Aliases for STXBP5L Gene
External Ids for STXBP5L Gene
Previous GeneCards Identifiers for STXBP5L Gene
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. [provided by RefSeq, Jan 2017]
GeneCards Summary for STXBP5L Gene
STXBP5L (Syntaxin Binding Protein 5 Like) is a Protein Coding gene. Diseases associated with STXBP5L include Retinitis Pigmentosa 24. Gene Ontology (GO) annotations related to this gene include syntaxin binding. An important paralog of this gene is STXBP5.
UniProtKB/Swiss-Prot for STXBP5L Gene
May play a role in vesicle trafficking and exocytosis.