LARP7 ist ein Gen, das durch das Symbol LARP7 kodiert wird. Im Allgemeinen auch bezeichnet als: La-related protein 7; La ribonucleoprotein domain family member 7; P-TEFb-interaction protein for 7SK stability; PIP7S. LARP7 hat eine Masse von 66.9kDa, eine Aminosäurelänge von 582, und ist an Alazami syndrome beteiligt.
Wir bieten 8 antikörper gegen LARP7, aufgewachsen in Kaninchen, welche geeignet sind für WB and ELISA mit Proben abgeleitet von Human und Maus.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Zellort
Nucleus > Nucleoplasm.
