STX7 Chromosome 6

Syntaxin 7
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
6q23.2
Ensembl
ENSG00000079950
Associated Conditions (1)
Abnormality of neuronal migration
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS864309676 Health Risk Likely pathogenic Abnormality of neuronal migration, Abnormality of neuronal migration
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