LARP7 è un gene codificato dal simbolo LARP7. Comunemente indicato anche come: La-related protein 7; La ribonucleoprotein domain family member 7; P-TEFb-interaction protein for 7SK stability; PIP7S. LARP7 ha una massa di 66.9kDa, una lunghezza di amminoacidi di 582, ed è implicato in Alazami syndrome.
Offriamo 8 anticorpi contro LARP7, allevati nel Coniglio, che sono adatti per WB e ELISA con campioni derivati da Umano e Topo.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Posizione cellulare
Nucleus > Nucleoplasm.
