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 short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft.
Treacher Collins syndrome 3
TCS3
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Leukodystrophy, hypomyelinating, 11
HLD11
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the archaeal Rpo3/eukaryotic RPB3 RNA polymerase subunit family.
POLR1E, POLR1C, DNA-directed RNA polymerases I and III subunit RPAC1, DNA-directed RNA polymerase I subunit C, RNA polymerases I and III subunit AC1, AC40, DNA-directed RNA polymerases I and III 40 kDa polypeptide, RPA39, RPC40, RPA40
Proteins
Immunology & Infectious Disease
39250Da
We found 4 products in 1 category
ab246976
ab224621