EPB42, Official Symbol EPB42provided by HGNC Official Full Name erythrocyte membrane protein band 4.2provided by HGNC Primary source HGNC:HGNC:3381 See related Ensembl:ENSG00000166947 MIM:177070; AllianceGenome:HGNC:3381 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 PA; SPH5 Summary Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 26.6) See more Orthologs mouse all