GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 08 Dec 2016.
PR domain containing 5
PRDM5, PfM2, PR domain containing 5 PFM2
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008] (from
Manson et al., Boston, United States. In Hum Mol Genet, Jan 2016
Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation.
Cursiefen et al., Köln, Germany. In Case Rep Ophthalmol Med, 2014
A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders.
Tokino et al., Sapporo, Japan. In Clin Cancer Res, 2007
Data suggest that epigenetic alteration of PRDM5 (e.g., methylation of its 5'-CpG island or trimethylation of Lys(27) of histone H3) likely plays a key role in the progression of gastrointestinal cancers and may be a useful molecular marker.