Aliases for EPB42 Gene
External Ids for EPB42 Gene
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]
GeneCards Summary for EPB42 Gene
EPB42 (Erythrocyte Membrane Protein Band 4.2) is a Protein Coding gene. Diseases associated with EPB42 include epb42-related hereditary spherocytosis and spherocytosis, hereditary, type 5. GO annotations related to this gene include structural constituent of cytoskeleton and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.
UniProtKB/Swiss-Prot for EPB42 Gene
Probably plays an important role in the regulation of erythrocyte shape and mechanical properties