SYTL5 Chromosome X

Synaptotagmin like 5
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Synaptotagmin like tandem C2 proteins
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000147041
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS143176819 Health Risk Conflicting classifications of pathogenicity
RS200888867 Health Risk Conflicting classifications of pathogenicity
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