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CFHR3

The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Secreted

Single cell type specificity

Cell type enriched (Hepatocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (NTERA-2, SuSa, T-47d, U-266/70)

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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