Entrez gene ID | | 2035 |
Official gene symbol | | EPB41 |
Full name | | erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) |
Aliases | | ,4.1R,EL1,HE, |
Gene 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. |
Location | | Chromosome: 1 Locus: 1p33-p32 |
Gene position | | 29213603 - 29446558 Map Viewer |
Gene orientation | | plus |
Gene size | | 232956 bp |
Gene sequence |
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OMIM ID | | 130500 |
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