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Official Full Name
erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
EPB41; erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked); EL1; protein 4.1; 4.1R; 41_HUMAN; Band 4.1; E41P; EL 1; Elliptocytosis 1; Elliptocytosis 1 RH linked; EPB 4.1; EPB 41; EPB4.1; Erythrocyte membrane protein band 4.1 (elliptocytosis 1 RH linked); Erythrocyte membrane protein band 4.1; Erythrocyte surface protein band 4.1; HE; P4.1; OTTHUMP00000003770; OTTHUMP00000003771; OTTHUMP00000003772; OTTHUMP00000003773; OTTHUMP00000003774