Gene Symbol | GYPC |
Entrez Gene ID | 2995 |
Full Name | glycophorin C (Gerbich blood group) |
Synonyms | CD236,CD236R,GE,GE:GPC:GPD:GYPD,GPC,GPD,GYPD,PAS-2,PAS-2' |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. |
Disorder MIM: | |
Disorder Html: | {Malaria, resistance to}, 611162 (3); [Blood group, Gerbich], 616089 (3) |