GYPC Chromosome 2

Glycophorin C (Gerbich blood group)
2 variants 2 Trait

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What This Gene Does
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]
Gene Info
Gene Group
"Blood group antigens|CD molecules"
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000136732
Associated Conditions (2)
Blood group
Gerbich system
All Variants (2)
RSID Category Clinical Significance Conditions
RS121912760 Trait Affects Blood group, Gerbich system, Blood group
RS121912761 Trait Affects Blood group, Gerbich system, Blood group
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