Recombinant fragment: KMPEKAEQYQ PLTASVSLQN SLDAPMEDCV ISILGRGLIH RERSYRFRSV WPENTMCAKF QFTPTHVGLQ RLTVEVDCNM FQNLTNYKSV TVVAPELSA, corresponding to amino acids 623-722 of Human EPB42 with a 26kDa enzyme tag (NP_000110).
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent dilution.
1/500 - 1/1000. Detects a band of approximately 70 kDa (predicted molecular weight: 70 kDa).
FunctionProbably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Involvement in diseaseDefects in EPB42 are the cause of spherocytosis type 5 (SPH5) [MIM:612690]; also known as hereditary spherocytosis type 5 (HS5). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported.
Sequence similaritiesBelongs to the transglutaminase superfamily. Transglutaminase family.
Post-translational modificationsBoth cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.