EPB41

(redirected from EPB4.1)

EPB41

A gene on chromosome 1p33-p32 that encodes protein 4.1, which, with spectrin and actin, constitutes the red cell membrane cytoskeletal network. This network plays a critical role in red cell shape and deformability.

Molecular pathology
EPB41 mutations cause elliptocytosis type 1.
References in periodicals archive ?
The different annealing temperatures were [alpha]-, [beta]-, [sup.A][gamma]-, G[gamma]-globin, 55[degrees]C; SPTA1, SPTB, EPB4.1, 55[degrees]C; DNMT1, DNMT3a, DNMT3b, 60[degrees] C; BCL11A 54[degrees]C.
The mRNA expression of EPB4.1 had an increasing trend, whereas the difference had no statistical change compared to the level of pretreatment (Table 4).
The mRNA expressions of SPTA1, SPTB, and EPB4.1, mainly erythrocyte membrane skeleton protein, were markedly increased after treatment, and the activities of [Na.sup.+][K.sup.+]-ATPtase and T-ATPtase of erythrocyte were also significantly increased, which are the causes of Yisui Shengxue Granule promoting the intact of erythrocyte morphology and the recovery of erythrocyte function.