| Gene Symbol | EPB41 |
| Entrez Gene ID | 2035 |
| Full Name | erythrocyte membrane protein band 4.1 |
| Synonyms | 4.1R,EL1,HE |
| General protein information |
|
| 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) |
User Manual