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Epb4.2 Probably plays an important role in the regulation of erythrocyte shape and mechanical properties. Defects in EPB42 are the cause of spherocytosis type 5 (SPH5); 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. Belongs to the transglutaminase superfamily. Transglutaminase family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 15q15.2
Cellular Component: cortical cytoskeleton; cytoskeleton; plasma membrane
Molecular Function: ATP binding; protein binding; protein-glutamine gamma-glutamyltransferase activity; structural constituent of cytoskeleton
Biological Process: cell morphogenesis; cytoskeleton organization; erythrocyte maturation; hemoglobin metabolic process; iron ion homeostasis; peptide cross-linking; regulation of cell shape; spleen development
Disease: Spherocytosis, Type 5
Reference #:  P16452 (UniProtKB)
Alt. Names/Synonyms: E42P; EPB42; Erythrocyte membrane protein band 4.2; Erythrocyte protein 4.2; erythrocyte surface protein band 4.2; MGC116735; MGC116737; P4.2; PA; SPH5
Gene Symbols: EPB42
Molecular weight: 77,009 Da
Basal Isoelectric point: 8.39  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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