POLR1C è un gene codificato dal simbolo POLR1C. Comunemente indicato anche come: 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 ha una massa di 39.25kDa, una lunghezza di amminoacidi di 346, ed è implicato nella malattia: Treacher Collins syndrome 3; Leukodystrophy, hypomyelinating, 11.
Offriamo 6 anticorpi contro POLR1C, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family.
Posizione cellulare
Nucleus.
