Aliases for EPS8L2 Gene
External Ids for EPS8L2 Gene
Previous GeneCards Identifiers for EPS8L2 Gene
This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
GeneCards Summary for EPS8L2 Gene
EPS8L2 (EPS8 Like 2) is a Protein Coding gene. Diseases associated with EPS8L2 include Deafness, Autosomal Recessive 106 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include actin binding and Rac guanyl-nucleotide exchange factor activity. An important paralog of this gene is EPS8.
UniProtKB/Swiss-Prot for EPS8L2 Gene
Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity).