CD44 Chromosome 11

CD44 molecule (IN blood group)
12 variants 12 Health Risk

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What This Gene Does
The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Proteoglycans"
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000026508
Associated Conditions (2)
Nephrolithiasis
calcium oxalate
Key Variants
All Variants (12)
RSID Category Clinical Significance Conditions
RS112762 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS353612 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS353618 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS353623 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS353630 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS353637 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS353647 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS3794105 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS3794109 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS3794110 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS7110737 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
RS7116432 Health Risk association Nephrolithiasis, calcium oxalate, Nephrolithiasis
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