EPB41 Products

Description

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]

Bioinformatics

Entrez	2035 Human
Uniprot	AAH39079 Human AAH39079.1 Human P11171 Human Q4VB86 Human
Product By Gene ID	2035
Alternate Names	4.1RBand 4.1 E41P EL1 EPB4.1 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) erythrocyte surface protein band 4.1 HE P4.1 protein 4.1