PRDM5 Antibody – Rabbit Polyclonal

PRDM5: 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. Defects in PRDM5 are the cause of Brittle cornea syndrome type 2 (BCS2). A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription factor; Methyltransferase, protein lysine, predicted; C2H2-type zinc finger protein; DNA-binding

Chromosomal Location of Human Ortholog: 4q25-q26

Cellular Component: nucleus

Molecular Function: methyltransferase activity; protein binding; sequence-specific DNA binding; metal ion binding

Biological Process: transcription, DNA-dependent; histone deacetylation; mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; histone H3-K9 methylation

Disease: Brittle Cornea Syndrome 2