Target intelligence / Profile preview

DNA-directed RNA polymerases I and III subunit RPAC1 (POLR1C)

Target
POLR1C
Molecular classification
Enzyme (RNA polymerase subunit), Transcription factor (as part of the transcription complex)
01

Overview

DNA-directed RNA polymerases I and III subunit RPAC1 (POLR1C) is a protein encoded by the POLR1C gene on chromosome 6 and is a common structural subunit of both RNA polymerase I and III complexes. These multi-subunit enzymes are responsible for the transcription of ribosomal RNA (rRNA; by polymerase I) and both tRNAs and small non-coding RNAs (by polymerase III), which are essential for ribosome assembly and protein synthesis in all living cells. POLR1C is critical for cellular and organismal viability due to its role in RNA biogenesis. Pathogenic mutations in POLR1C are linked to specific syndromic disorders, notably Treacher Collins syndrome 3 and hypomyelinating leukodystrophy, indicating its importance during early embryonic development for craniofacial and nervous system structures.

Other names
AC40DNA-directed RNA polymerase I subunit CDNA-directed RNA polymerases I and III 40 kDa polypeptideDNA-directed RNA polymerases I and III subunit RPAC1polymerase (RNA) I polypeptide Cpolymerase (RNA) I polypeptide C, 30kDapolymerase (RNA) I subunit CRNA polymerase I subunit CRNA polymerases I and III subunit AC1RPA39RPA40RPA5RPAC1RPAC1_HUMANRPC40TCS3
02

Biological functions

Catalysis of DNA-dependent RNA transcriptionSynthesis of ribosomal RNA (rRNA)Synthesis of transfer RNA (tRNA) and other small RNAsEarly development of craniofacial structures
03

Disease associations

Craniofacial developmental disorders (Treacher Collins syndrome, especially type 3)Leukodystrophy, hypomyelinating, 11Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeColoboma
04

Safety considerations

Disruption may lead to severe developmental disorders, particularly affecting craniofacial structures and neurodevelopment

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