Gene: EPB41

Alternate names for this Gene: 4.1R|EL1|HE

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p35.3

Description of this Gene: erythrocyte membrane protein band 4.1

Type of Gene: protein-coding