CUTL1 est un gène codé par le symbole CUX1. D'autres noms incluent: Homeobox protein cut-like 1; CCAAT displacement protein; CDP; Homeobox protein cux-1; CUX1. CUTL1 a une masse de 164.19kDa, une longueur d'acide aminé de 1505, et est impliqué dans Global developmental delay with or without impaired intellectual development.
Nous proposons 6 des anticorps contre CUTL1, élevé dans Lapin, 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 involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator.
Résumé Entrez
The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.
Implication dans la maladie
Global developmental delay with or without impaired intellectual development: An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients.
Similitudes de séquence
Belongs to the CUT homeobox family.
Localisation cellulaire
Nucleus.
