Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ATN1 contributors: mct - updated : 15-05-2019
HGNC name atrophin 1
HGNC id 3033
ASSOCIATED DISORDERS
corresponding disease(s) DRPLA , CHEDDA
Susceptibility
Variant & Polymorphism repeat
  • disorder related to the expansion of a trinucleotide CAG repeats (7 to 23 in normal population and 49 to 75 patients)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice