UTX Antibody – Rabbit Polyclonal

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

UTX: a nuclear protein that contains 8 tetratrico peptide repeat (TPRs). Processes involving TPR proteins include cell-cycle control, transcription repression, stress response, protein kinase inhibition, mitochondrial and peroxisomal protein transport and neurogenesis.

Protein type: EC 1.14.11.-; Oxidoreductase

Chromosomal Location of Human Ortholog: Xp11.2

Cellular Component: nucleoplasm; histone methyltransferase complex; nucleus

Molecular Function: identical protein binding; dioxygenase activity; metal ion binding

Biological Process: heart morphogenesis; respiratory system process; notochord morphogenesis; establishment and/or maintenance of chromatin architecture; regulation of gene expression; in utero embryonic development; multicellular organism growth; neural tube closure; histone H3-K4 methylation; mesodermal cell differentiation; Wnt receptor signaling pathway through beta-catenin; somite rostral/caudal axis specification

Disease: Kabuki Syndrome 2; Kabuki Syndrome 1