SOX11 est un gène codé par le symbole SOX11. Il est également connu sous le nom de Transcription factor SOX-11. SOX11 a une masse de 46.68kDa, une longueur d'acide aminé de 441, et est impliqué dans Mental retardation, autosomal dominant 27.
Nous proposons 12 des anticorps contre SOX11, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).
Résumé Entrez
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis.
Spécificité tissulaire
Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle.
Implication dans la maladie
Mental retardation, autosomal dominant 27: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
Localisation cellulaire
Nucleus.
