STRs database » NOP56 locus
Overview of repeats
Expansions of a hexanucleotide repeat GGCCTG in intron 1 region of the NOP56 gene causes spinocerebellar ataxia type 36 (SCA36) (Kobayashi et al. (2011)). The healthy population usually has 3-14 repeats whereas in affected individuals, the pathogenic allele typically has long expansions, ranging from 650 to 2500 repeats (García-Murias et al. (2012); Kobayashi et al. (2011)). However, much shorter alleles (25, 30 and 31 hexanucleotide repeats) have been found in three affected individuals (Obayashi et al. (2014)) demonstrating that the disease can be caused by small expansions as well.
In Eastern Spain, Baviera-Muñoz et al. (2023) identified SCA36 in 37 individuals from 16 unrelated families, most sharing a regional founder haplotype.