Aliases for EPB41L1 Gene
External Ids for EPB41L1 Gene
Previous GeneCards Identifiers for EPB41L1 Gene
Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
GeneCards Summary for EPB41L1 Gene
EPB41L1 (Erythrocyte Membrane Protein Band 4.1 Like 1) is a Protein Coding gene. Diseases associated with EPB41L1 include Mental Retardation, Autosomal Dominant 11 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is EPB41L3.
UniProtKB/Swiss-Prot for EPB41L1 Gene
May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.