RecName: Full=DNA-directed RNA polymerases I and III subunit RPAC1; Sh - Protein

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Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. [Mol Genet Genomic Med. 2019]
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I, Karkar A, Drissi C, Benrhouma H, Klaa H, Samaan S, Renaldo F, Elmaleh M, Ben Hamouda M, Abdelhak S, et al. Mol Genet Genomic Med. 2019 Sep; 7(9):e914. Epub 2019 Jul 31.
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. [Am J Med Genet A. 2019]
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Ghesh L, Vincent M, Delemazure AS, Boyer J, Corre P, Perez F, Geneviève D, Laplanche JL, Collet C, Isidor B. Am J Med Genet A. 2019 Jul; 179(7):1390-1394. Epub 2019 Apr 8.
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. [Biochem Biophys Res Commun. 2018]
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.
Matsumoto N, Kaneko M, Watanabe N, Itaoka M, Seki Y, Morimoto T, Torii T, Miyamoto Y, Keiichi Homma, Yamauchi J. Biochem Biophys Res Commun. 2018 Apr 30; 499(1):78-85. Epub 2018 Mar 21.

RefSeq genomic sequence
See the genomic reference sequence for the POLR1C gene (NG_028283.4).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the POLR1C gene.

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O15160 [Domain Mapping of Disease Mut...]
O15160
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=DNA-directed RNA polymerases I and III subunit RPAC1; Short=DNA-di...
RecName: Full=DNA-directed RNA polymerases I and III subunit RPAC1; Short=DNA-directed RNA polymerase I subunit C; Short=RNA polymerases I and III subunit AC1; AltName: Full=AC40; AltName: Full=DNA-directed RNA polymerases I and III 40 kDa polypeptide; Short=RPA40; AltName: Full=RPA39; AltName: Full=RPC40
gi|3914807|sp|O15160.1|RPAC1_HUMAN

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