Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ATN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1822
Official gene symbolATN1
Full nameatrophin 1
Aliases,B37,D12S755E,DRPLA,HRS,NOD,
Gene summaryDentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq]
LocationChromosome: 12   Locus: 12p13.31
Gene position7033626 - 7051484  Map Viewer
Gene orientationplus
Gene size17859 bp
Gene sequence
OMIM ID607462