Anti-HPD Antibody Picoband® Fluoro488 Conjugated

The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK) . Two transcript variants encoding different isoforms have been found for this gene.

Expressed at low levels in the more differentiated suprabasal regions of the small intestine, and at higher levels in the colon, mainly in the upper region and in scattered cells throughout the remaining epithelium. Also expressed in epithelial cells of bladder, ileum and stomach and at lower levels in pancreas and earskin. The phosphorylated form is nearly exclusively expressed in goblet cells of the small intestine and in the lumen-proximal cells of the colon (at protein level) . Also expressed in jejunum and duodenum.

Cell Biology, Co-Activators/Co-Repressors, Epigenetics and Nuclear Signaling, Nuclear Receptors, Nuclear Signaling Pathways, Proteasome / Ubiquitin, Proteolysis/Ubiquitin, Transcription, Transcription Factors, Ubiquitin & Ubiquitin Like Modifiers

Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in acetylation of alpha-tubulin (PubMed:19185337) . May also have a methyltransferase activity. Involved in cell migration. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation.

1. Awata, H., Endo, F., Matsuda, I. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD) . Genomics 23: 534-539, 1994. 2. Borden, M., Holm, J., Leslie, J., Sweetman, L., Nyhan, W. L., Fleisher, L., Nadler, H., Lewis, D., Scott, C. R. Hawkinsinuria in two families. Am. J. Med. Genet. 44: 52-56, 1992. 3. Cerone, R., Holme, E., Schiaffino, M. C., Caruso, U., Maritano, L., Romano, C. Tyrosinemia type III: diagnosis and ten-year follow-up. Acta Paediat. 86: 1013-1015, 1997.