LARP7 est un gène codé par le symbole LARP7. Communément appelé aussi: La-related protein 7; La ribonucleoprotein domain family member 7; P-TEFb-interaction protein for 7SK stability; PIP7S. LARP7 a une masse de 66.9kDa, une longueur d'acide aminé de 582, et est impliqué dans Alazami syndrome.
Nous proposons 8 des anticorps contre LARP7, élevé dans Lapin, qui sont appropriés pour le WB et ELISA avec des échantillons dérivés de Humain et Souris.
Informations sur les Gènes et les Protéines
Résumé UniProt
Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation.
Résumé Entrez
This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants.
Implication dans la maladie
Alazami syndrome: A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia.
Localisation cellulaire
Nucleus > Nucleoplasm.
