Anti-EPB41L1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The EPB41L1 gene encodes for protein 4.1N often referred to as EPB41L1 which is a member of the protein 4.1 superfamily. This protein has a molecular mass of approximately 145 kDa. EPB41L1 is expressed mostly in the nervous system including various brain regions and peripheral nerves. This protein is pivotal for maintaining structural integrity and stability of the cytoskeleton. EPB41L1 interacts with spectrin-actin complexes contributing to cellular shape and mechanical properties.

Biological function summary

Protein 4.1N plays a role in cellular processes like cell adhesion and migration. It participates in the formation of multiprotein complexes that include cytoskeletal elements and membrane proteins. This protein also influences neuronal function through its interaction with ion channels and synaptic proteins. EPB41L1 is integral to neuronal adaptability and contributes to synaptic plasticity processes impacting neuron communication.

Pathways

EPB41L1 is heavily involved in the signal transduction pathways within neurons. This protein associates with the Ras signaling pathway and can engage with proteins like Ras-related proteins that influence cell proliferation and differentiation. Additionally EPB41L1 is part of the integrin signaling pathway where it modulates cellular interactions with the extracellular matrix and impacts cell movement.

Associated diseases and disorders

EPB41L1 has connections to neurodevelopmental and psychiatric disorders including schizophrenia and autism spectrum disorders. Impaired EPB41L1 function may disrupt neuronal communication leading to cognitive and behavioral symptoms. The protein is also linked to interactions with DISC1 a protein associated with psychiatric conditions providing insights into its role in the etiology of these disorders.