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FLASH GENE
Symbol ARCN1 contributors: mct - updated : 19-09-2016
HGNC name archain 1
HGNC id 649
ASSOCIATED DISORDERS
corresponding disease(s) MGMD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
causes diluted coat color and Purkinje cell degeneration
Susceptibility to glioma
Variant & Polymorphism other
  • locus within the ARCN1 gene, associated with a significantly reduced risk for glioma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation in Arcn1 is responsible for the phenotypes in an ENU-induced mouse mutant, nur17, identified by screening for mice with both diluted coat color and ataxia (Xu 2010)