syntaxin-binding protein 5-like (tomosyn-2, lethal[2] giant larvae protein homolog 4, STXBP5L, KIAA1006, LLGL4)
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Function
- role in vesicle trafficking & exocytosis
Structure
- belongs to the WD repeat L(2)GL family
- contains 1 v-SNARE coiled-coil homology domain
- contains 6 WD repeats
Compartment
- cytoplasm, peripheral membrane
- cytoplasmic, associated with vesicular membranes & plasma membrane
Alternative splicing
named isoforms=2
Expression
- detected in kidney, hippocampus
Pathology
- detected in lung carcinoma
Polymorphism
- SNP in STXBP5L gene & haplotype linkage with another SNP that increases expression of FBXO40 is associated with less photoaging of facial skin[2]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9Y2K9.html
- ↑ 2.0 2.1 Le Clerc S et al. A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging. J Invest Dermatol 2013 Apr; 133:929. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2322314