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EPB41

Official Full Name
erythrocyte membrane protein band 4.1
Organism
Homo sapiens
GeneID
2035
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.[provided by RefSeq, Oct 2009]
Synonyms
HE; EL1; 4.1R;

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