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The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016],alternative products:At least six differentially spliced products may exist,disease:Defects in DLEC1 may be a cause of breast cancer.,disease:Defects in DLEC1 may be a cause of esophageal cancer [MIM:133239].,disease:Defects in DLEC1 may be a cause of primary lung cancer [MIM:211980]. In 33% of lung, esophageal and renal cancer cell lines and primary cancers, there is a lack of functional transcripts and an increase in alternatively spliced non-functional transcripts; the gene itself is not altered.,disease:Defects in DLEC1 may be a cause of renal cancer.,function:May act as a tumor suppressor by inhibiting cell proliferation.,sequence caution:Intron retention.,tissue specificity:Expressed in all tissues examined. Expression is highest in prostate and testis.,
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