EZR Chromosome 6

Ezrin
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in EZR.

What This Gene Does
The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|FERM domain containing"
Locus Type
gene with protein product
Location
6q25.3
Ensembl
ENSG00000092820
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS201317128 Health Risk Conflicting classifications of pathogenicity
Sign Up to Analyze Your DNA Log In