Unlock Exclusive Discounts & Flash Sales! Click Here to Join the Deals on Every Wednesday!
Also known as: HE; EL1; 4.1R<br />The protein encoded by this gene constitutes the cytoskeleton network of red blood cells together with spectin and actin. This complex plays a key role in red blood cell shape and deformability. Mutations in this gene are associated with elliptocytosis type 1 (EL1). Alternative splice transcript variants encoding different isoforms have been described for this gene.