VANGL2 Chromosome 1
VANGL planar cell polarity protein 2
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What This Gene Does
The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]
Associated Conditions (2)
Neural tube defects
susceptibility to
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267607167 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |
| RS267607168 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |