GENETIC ENCYCLOPEDIA
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gene: MRC1

id4360
symbolMRC1
organismHomo sapiens
full namemannose receptor C-type 1
summaryThe recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
variant-disease

NM_002438.4(MRC1):c.1186G>A (p.Gly396Ser) AND Multibacillary leprosy

GRCh38/hg38 10p12.33(chr10:17839748-17920896)x3 AND See cases

GRCh38/hg38 10p12.33(chr10:17767524-17839747)x3 AND See cases

GRCh38/hg38 10p12.33(chr10:17767524-17839747)x1 AND See cases

GRCh38/hg38 10p12.33(chr10:17632287-17934423)x1 AND See cases

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