DISEASES

Disease-gene associations mined from literature

Literature associating PRDM5 and brittle cornea syndrome 1

PRDM5 [ENSP00000264808]

PR domain zinc finger protein 5; Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May caused G2/M arrest and apoptosis in cancer cells; PR/SET domain family

Synonyms:  PRDM5,  PRDM5p,  hPRDM5,  Q9NQX1,  PFM2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM