rs112558388

This variant is located in the DCC gene.

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

DCC-related disorder; not provided; Malignant tumor of esophagus;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2;Colorectal cancer

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About DCC

This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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