dentatorubral-pallidoluysian atrophy gene (DRPLA gene, atrophin-1 gene)

Pathology: 1) trinucleotide repeat expansion (CAG) associated with dentatorubral pallidoluysian atrophy (DRPLA) 2) normally varies from 7 to 23 CAG copies, expansion to ~49 to 75+ associated with DRPLA

Related

atrophin-1; dentatorubral-pallidoluysian atrophy protein (ATN1, D12S755E, DRPLA) dentatorubral-pallidoluysian atrophy (DRPLA)

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: atrophin-1 LOCUS: human chromosome-12 P13.1-12.3 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

References

OMIM :accession 125370