GENETIC ENCYCLOPEDIA
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gene: CANX

id821
symbolCANX
organismHomo sapiens
full namecalnexin
summaryThis gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018]
variant-disease

GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3 AND not provided

GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 AND Sensorineural hearing loss

GRCh38/hg38 5q35.3(chr5:179680598-180161082)x3 AND See cases

GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3 AND not provided

GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1 AND See cases

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