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IKMB: Blood Group DB

044 ER

The Er blood group system consists of five antigens carried on Piezo Type Mechanosensitive Ion Channel Component 1 (Piezo1). The protein comprises 2521 amino acid residues, 36 transmembrane domains, and one large extracellular domain (amino acids 2198 to 2431). Piezo1 is an important non-selective cation channel in a variety of tissues. The protein is encoded by a highly polymorphic single gene PIEZO1, associated with pathogenic mutations (e.g. dehydrated hereditary stomatocytosis, generalized lymphatic dysplasia, hemolytic anemia).

Antigens
[1] ER1
[2] ER2
Reference Info
Gene: PIEZO1
Allele: ER*01
Seq: NG_042229.1 (genomic), NM_001142864.4 (transcript), NP_001136336.2 (protein)
Entrez GeneID: 9780
Number of exons: None (hg19), None (hg38)
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