HDAC8 est un gène codé par le symbole HDAC8. Communément appelé aussi: Histone deacetylase 8; HD8; HDACL1. HDAC8 a une masse de 41.76kDa, une longueur d'acide aminé de 377, et est impliqué dans les maladies: Cornelia de Lange syndrome 5; Wilson-Turner X-linked mental retardation syndrome.
Nous proposons 12 des anticorps contre HDAC8, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP avec des échantillons dérivés de Humain, Souris, Rat et Singe.
Informations sur les Gènes et les Protéines
Résumé UniProt
Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility.
Résumé Entrez
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene.
Spécificité tissulaire
Weakly expressed in most tissues. Expressed at higher level in heart, brain, kidney and pancreas and also in liver, lung, placenta, prostate and kidney.
Implication dans la maladie
Cornelia de Lange syndrome 5: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
Wilson-Turner X-linked mental retardation syndrome: A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.
Similitudes de séquence
Belongs to the histone deacetylase family. HD type 1 subfamily.
Modification post-traductionnelle
Phosphorylated by PKA on serine 39. Phosphorylation reduces deacetylase activity observed preferentially on histones H3 and H4.
Localisation cellulaire
Nucleus. Cytoplasm.
Excluded from the nucleoli. Found in the cytoplasm of cells showing smooth muscle differentiation.
