STXBP5L, Official Symbol STXBP5Lprovided by HGNC Official Full Name syntaxin binding protein 5Lprovided by HGNC Primary source HGNC:HGNC:30757 See related Ensembl:ENSG00000145087 MIM:609381; AllianceGenome:HGNC:30757 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LLGL4 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. [provided by RefSeq, Jan 2017] Expression Biased expression in brain (RPKM 4.6), thyroid (RPKM 3.2) and 5 other tissues See more Orthologs mouse all