DISEASES

Disease-gene associations mined from literature

Literature associating ANKRD31 and Rett syndrome

ANKRD31 [ENSP00000274361]

Ankyrin repeat domain-containing protein 31; Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes.

Synonyms:  ANKRD31,  ANKRD31p,  hANKRD31,  D6RJB7,  Q8N7Z5 ...

Linkouts:  STRING  Pharos  UniProt