GENETIC ENCYCLOPEDIA
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gene: SORT1

id6272
symbolSORT1
organismHomo sapiens
full namesortilin 1
summaryThis gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
variant-disease

GRCh37/hg19 1p13.3(chr1:109832283-109871787)x1 AND not provided

NM_001408.3(CELSR2):c.*919G>T AND Low density lipoprotein cholesterol level quantitative trait locus 6

GRCh37/hg19 1p13.3(chr1:109801239-109901996)x3 AND not provided

GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3 AND not provided

GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3 AND See cases

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