| Gene Symbol |
EPB41
|
| Gene Synonyms |
HE EL1 4.1R |
| Gene Full Name |
erythrocyte membrane protein band 4.1 |
| 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.[provided by RefSeq, Oct 2009] |
| Alternative Names |
4.1R 41_HUMAN Band 4.1 E41P EL 1 EL1 EL1 gene Elliptocytosis 1 Elliptocytosis 1 RH linked EPB 4.1 EPB 41 EPB4.1 Epb41 Erythrocyte membrane protein band 4.1 (elliptocytosis 1 RH linked) Erythrocyte membrane protein band 4.1 Erythrocyte surface protein band 4.1 HE P4.1 Protein 4.1 Protein 4.1 red blood cell type |
| Molecular Weight(MW) |
97 kDa |
| Cellular Localization |
Cytoplasm,Cytoskeleton,Nucleus. |