EPB42


EPB42

A gene on chromosome 15q15-q21 that encodes protein 4.2, an ATP-binding protein which may regulate the association of protein 3 with
ankyrin on red cell membranes. It likely has a role in erythrocyte shape and mechanical property regulation.
Molecular pathology
EPB42 mutations cause autosomal recessive spherocytic elliptocytosis and autosomal recessive haemolytic anaemia.