SYTL5 Chromosome X
Synaptotagmin like 5
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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 | — |