DCC

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The DCC (deleted in colorectal cancer) gene at 18q21.2 codes for the netrin receptor DCC. This receptor mediates axon outgrowth and the steering response. It is strongly implicated as a tumour suppressor gene. It is the receptor for netrin-1.

Varations are associated with:

  1. Colorectal cancer (loss of gene in cancer cell lines) (CRC18, CRCR1, OMIM:114500)
  2. Oesophageal cancer (loss of gene in cancer cell lines) OMIM:133239
  3. Familial horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, OMIM:617542)
    • Autosomal recessive
  4. Mirror movements 1 and/or agenesis of the corpus callosum (MRMV1, bimanual synergia, OMIM:157600)
    • Automsomal dominant with variable penetrance
    • Mirror movements are contralateral involuntary movements that mirror voluntary ones
      • Can also be caused by RAD51 and DNAL4 gene mutations
    • It appears that mirror movements may be associated with dysgenesis while agenesis of the coprus callosum results in normal phenotype (from the point of view of mirror movements)

In embryonic mouse brain, expression of the analogue to DCC is in the telencephalic cortical plate as well as in the developing brainstem nuclei.