Biochem/physiol Actions

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.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 (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM 109270).[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. PRIMARYREFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-95 BM465039.1 1-95 96-2238 J03796.1 40-2182 2239-2780 AL833483.1 1799-2340 2781-2943 BU184161.1 560-722 2944-3952 AL833483.1 2504-3512 3953-4352 BM997767.1 226-625 4353-4796 BE257308.1 115-558 4797-5656 BC009063.1 442-1301 5657-6064 BM740451.1 1-408 c

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Immunogen

Synthetic peptide directed towards the N terminal region of human EPB41

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Sequence

Synthetic peptide located within the following region: SESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLD