(Erythrocyte Membrane Protein Band 4.1 (Elliptocytosis 1, RH-Linked) (EPB41))
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].
Ciana, Achilli, Hannoush, Risso, Balduini, Minetti: "Freely turning over palmitate in erythrocyte membrane proteins is not responsible for the anchoring of lipid rafts to the spectrin skeleton: a study with bio-orthogonal chemical probes." in: Biochimica et biophysica acta, Vol. 1828, Issue 3, pp. 924-31, (2013) (PubMed).
Ciana, Achilli, Balduini, Minetti: "On the association of lipid rafts to the spectrin skeleton in human erythrocytes." in: Biochimica et biophysica acta, Vol. 1808, Issue 1, pp. 183-90, (2010) (PubMed).
Aliases for EPB41 抗体
erythrocyte membrane protein band 4.1b (epb41b) 抗体 erythrocyte membrane protein band 4.1 (EPB41) 抗体 erythrocyte membrane protein band 4.1 (epb41) 抗体 erythrocyte membrane protein band 4.1 L homeolog (epb41.L) 抗体 erythrocyte membrane protein band 4.1 (Epb41) 抗体 4.1r 抗体 4.1R 抗体 AI415518 抗体 D4Ertd442e 抗体 el1 抗体 EL1 抗体 Elp-1 抗体 Elp1 抗体 epb41 抗体 EPB41 抗体 Epb41 抗体 HE 抗体 mKIAA4056 抗体 P4.1R 抗体 wu:fb70c02 抗体