SCRIB Chromosome 8
Scribble planar cell polarity protein
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What This Gene Does
This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"PDZ domain containing|Scribble complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000180900
Associated Conditions (1)
Neural tube defect
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2130127564 | Health Risk | Likely pathogenic | Neural tube defect, Neural tube defect |