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Antibody detects endogenous levels of total EPB41.
Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4. 1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-spectrin gene, the beta-spectrin gene, or the band 3 gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 4.1R; Band 4.1; elliptocytosis 1, RH-linked; EPB4.1; Erythrocyte membrane protein band 4.1; erythrocyte protein band 4.1; erythrocyte surface protein band 4.1; P4.1; Protein 4.1; Protein 4.1R
基因别名: 4.1R; AI415518; D4Ertd442e; E41P; EL1; Elp-1; Elp1; Epb4.1; EPB41; HE; Kiaa4056; mKIAA4056; RGD1564762
UniProt ID: (Human) P11171, (Mouse) P48193
Entrez Gene ID: (Human) 2035, (Mouse) 269587, (Rat) 313052