CBX2 Antibody – Rabbit Polyclonal

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]

CBX2: Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression. Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5). It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription regulation

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: nucleoplasm; heterochromatin; euchromatin; PcG protein complex; nucleus

Molecular Function: protein binding; DNA binding; chromatin binding; methylated histone residue binding

Biological Process: transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; cell differentiation; development of primary sexual characteristics

Disease: 46,xy Sex Reversal 5