RIPPLY2

Chr 6

ripply transcriptional repressor 2

Also known as: C6orf159, SCDO6, dJ237I15.1

NCBI Gene: 134701 ENSG00000203877 UniProt: Q5TAB7

This gene encodes a nuclear protein that functions as a transcriptional repressor required for somite segregation and establishment of rostrocaudal polarity during somitogenesis. Mutations cause spondylocostal dysostosis 6, a congenital disorder characterized by vertebral segmentation defects and rib abnormalities, inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (pLI 0.009, LOEUF 1.26), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…