KEGG   VARIANT: 1630v2
Entry
1630v2                      Variant                                
Name
DCC mutation
Type
Loss of function
Gene
DCC  DCC netrin 1 receptor [KO:K06765]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120470
Network
nt06541  Cytoskeleton in neurons
Disease
H01287  Congenital mirror movements
H02450  Horizontal gaze palsy with progressive scoliosis
Reference
  Authors
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Meneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ
  Title
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
  Journal
Hum Mutat 39:23-39 (2018)
DOI:10.1002/humu.23361
Reference
  Authors
Lai Wing Sun K, Correia JP, Kennedy TE
  Title
Netrins: versatile extracellular cues with diverse functions.
  Journal
Development 138:2153-69 (2011)
DOI:10.1242/dev.044529
Reference
  Authors
Ahmed G, Shinmyo Y
  Title
Multiple Functions of Draxin/Netrin-1 Signaling in the Development of Neural Circuits in the Spinal Cord and the Brain.
  Journal
Front Neuroanat 15:766911 (2021)
DOI:10.3389/fnana.2021.766911
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