GYPC Chromosome 2
Glycophorin C (Gerbich blood group)
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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 |