HDAC6 est un gène codé par le symbole HDAC6. Communément appelé aussi: Histone deacetylase 6; HD6; Tubulin-lysine deacetylase KIAA0901. HDAC6 a une masse de 131.42kDa, une longueur d'acide aminé de 1215, et est impliqué dans Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
Nous proposons 7 HDAC6 kits ELISA pour la détection qualitative ou quantitative de HDAC6 à partir d'échantillons Humain et Souris.
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) (PubMed:10220385). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:10220385). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:10220385). In addition to histones, deacetylates other proteins: plays a central role in microtubule-dependent cell motility by mediating deacetylation of tubulin (PubMed:12024216, PubMed:20308065). Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer (PubMed:24413532). In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome (PubMed:17846173). Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and target them to the aggresome, facilitating their clearance by autophagy (PubMed:17846173).
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 II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription.
Implication dans la maladie
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild mental retardation.
Similitudes de séquence
Belongs to the histone deacetylase family. HD type 2 subfamily.
Modification post-traductionnelle
Phosphorylated by AURKA.
Localisation cellulaire
Cytoplasm. Cytoplasm > Cytoskeleton. Nucleus. Perikaryon. Cell projection > Dendrite. Cell projection > Axon.
It is mainly cytoplasmic, where it is associated with microtubules.
