CHD4 è un gene codificato dal simbolo CHD4. Altri nomi includono: Chromodomain-helicase-DNA-binding protein 4; CHD-4; ATP-dependent helicase Mi-2 autoantigen 218 kDa protein; Mi2-beta. CHD4 ha una massa di 218.01kDa, una lunghezza di amminoacidi di 1912, ed è implicato in Sifrim-Hitz-Weiss syndrome.
Offriamo 8 anticorpi contro CHD4, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.
Sommario di Entrez
The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms.
Coinvolgimento nella malattia
Sifrim-Hitz-Weiss syndrome: An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients.
Somiglianze di sequenza
Belongs to the SNF2/RAD54 helicase family.
Posizione cellulare
Nucleus. Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome.
Associates with centrosomes in interphase.
