EZR Chromosome 6
Ezrin
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201317128 | Health Risk | Conflicting classifications of pathogenicity | — |