Gene Symbol | EPB41 |
Entrez Gene ID | 2035 |
Full Name | erythrocyte membrane protein band 4.1 |
Synonyms | 4.1R,EL1,HE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Elliptocytosis-1, 611804 (3) |