EPB41, Official Symbol EPB41provided by HGNC Official Full Name erythrocyte membrane protein band 4.1provided by HGNC Primary source HGNC:HGNC:3377 See related Ensembl:ENSG00000159023 MIM:130500; AllianceGenome:HGNC:3377 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HE; EL1; 4.1R Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 9.2), lymph node (RPKM 8.5) and 25 other tissues See more Orthologs mouse all