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Immunogen sequence: MHCKVSLLDD TVYECVVEKH AKGQDLLKRV CEHLNLLEED YFGLAIWDNA TSKTWLDSAK EIKKQVRGVP WNFTFNVKFY PPDPAQLTED ITRYYLCLQL RQDIVAGRLP CSFATLALLG SYTIQSELGD YDPELHGVDY VSDFKLAPNQ TKELEEKVME LHKSYRSMTP AQADLEFLEN AKKLSMYGVD LHKAKDLEGV DIILGVCSSG LLVYKDKLRI NRFPWPKVLK ISYKRSSFFI KIRPGEQEQY ESTIGFKLPS YRAAKKLWKV CVEHHTFFRL TSTDTIPKSK F; Positive Samples: 293T, Mouse brain, Mouse liver; Cellular Location: Cytoplasm, Nucleus, cell cortex, cytoskeleton
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 4.1R; Band 4.1; elliptocytosis 1, RH-linked; EPB4.1; Erythrocyte membrane protein band 4.1; erythrocyte surface protein band 4.1; P4.1; Protein 4.1; Protein 4.1R
Gene Aliases: 4.1R; AI415518; D4Ertd442e; E41P; EL1; Elp-1; Elp1; Epb4.1; EPB41; HE; Kiaa4056; mKIAA4056
UniProt ID: (Human) P11171, (Mouse) P48193
Entrez Gene ID: (Human) 2035, (Mouse) 269587
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