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Rabbit Anti-protein 4.2/FITC Conjugated antibody
background:
protein 4.2;
protein4.2;
EPB42;
EPB42_HUMAN;
Erythrocyte membrane protein band 4.2;
Erythrocyte protein 4.2;
Erythrocyte surface protein band 4.2;
MGC116735;
P4.2;
PA;
SPH5.
Function:
Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Subunit:
Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein.
Subcellular Location:
Cell membrane. Cytoplasm > cytoskeleton. Cytoplasmic surface of erythrocyte membranes.
Post-translational modifications:
Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.
DISEASE:
Defects 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.
Similarity:
Belongs to the transglutaminase superfamily. Transglutaminase family.
Database links:
Entrez Gene: 2038 Human
Omim: 177070 Human
SwissProt: P16452 Human
Unigene: 368642 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Involvement in disease: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.
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