Database of mammalian genes
Home

Home Search Browse RAGs User guide FAQs Links Questions Contribute

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EPB41 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2035
Official gene symbolEPB41
Full nameerythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Aliases,4.1R,EL1,HE,
Gene summaryThe 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.
LocationChromosome: 1   Locus: 1p33-p32
Gene position29213603 - 29446558  Map Viewer
Gene orientationplus
Gene size232956 bp
Gene sequence
OMIM ID130500