GENETIC ENCYCLOPEDIA
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gene: PRMT3

id10196
symbolPRMT3
organismHomo sapiens
full nameprotein arginine methyltransferase 3
summaryThis gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
variant-disease

GRCh38/hg38 11p15.1(chr11:20497522-20655482)x3 AND See cases

GRCh38/hg38 11p15.1(chr11:20375594-20634327)x1 AND See cases

GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3 AND See cases

GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 AND Aniridia 1

GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 AND See cases

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