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epb41

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Official Full Name
erythrocyte membrane protein band 4.1
Background
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.
Synonyms
EPB41; erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked); EL1; protein 4.1; 4.1R; P4.1; EPB4.1; band 4.1; erythrocyte surface protein band 4.1; HE; erythroid protein 4.1; erythroid membrane skeletal protein 4.1

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