POLR1C ist ein Gen, das durch das Symbol POLR1C kodiert wird. Im Allgemeinen auch bezeichnet als: DNA-directed RNA polymerases I and III subunit RPAC1; DNA-directed RNA polymerase I subunit C; AC40; DNA-directed RNA polymerases I and III 40 kDa polypeptide; RPA40; RPA39; RPC40; POLR1E. POLR1C hat eine Masse von 39.25kDa, eine Aminosäurelänge von 346, und ist an folgenden Krankheiten beteiligt: Treacher Collins syndrome 3; Leukodystrophy, hypomyelinating, 11.
Wir bieten 6 antikörper gegen POLR1C, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).
Entrez Zusammenfassung
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants.
Rolle bei Krankheiten
Treacher Collins syndrome 3: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
Leukodystrophy, hypomyelinating, 11: An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.
Sequenzähnlichkeiten
Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family.
