SCRIB Chromosome 8

Scribble planar cell polarity protein
1 variant 1 Health Risk

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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
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2130127564 Health Risk Likely pathogenic Neural tube defect, Neural tube defect
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