Alt. symbols: RPC1 | RPC155 | hRPC155 | C160

Approved name: RNA polymerase III subunit A
Alt. names: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa

Location: 10q22.3: 77953148 - 78029522 (-)
Gene type: protein_coding, 20 transcripts.

Scores: LoFtool: 0.761000 | pLI: 0.00000000 | LOEUF: 0.876

HGNC: 30074

NCBI: 11128, RefSeq: NG_029648.1

Ensembl: ENSG00000148606.15

LRG_ | Status: none

OMIM: 614258

Expression | ProteinAtlas

The POLR3A gene encodes the largest subunit of the RNA polymerase III. This enzyme is involved in the synthesis of RNA. The RNA polymerase III enzyme binds to DNA and transcribes it into RNA molecules. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble amino acids into working proteins during translation, which is essential for the normal functioning and survival of cells.

Biallelic mutations in the gene had been originally associated with two autosomal recessive conditions: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism [MIM:607694], and Wiedemann-Rautenstrauch syndrome [MIM:264090]. However in 2017, two mono-allelic missense mutations were reported to be associated with acute severe varicella zoster virus (VZV) infections in three unrelated and otherwise healthy children leading to cerebellitis, encephalitis, and pneumonitis, respectively (PMID: 28783042). The three described mutations were: p.M307V, p.R437Q, and p.Q707R. Two of the patients additionally carried one missense mutation in the gene POLR3C. Both POLR3A and POLR3C encode subunits of RNA polymerase III. Leukocytes from the 2 patients carrying both POLR3A and POLR3C mutations displayed defective IFN production upon VZV infection and reduced control of VZV replication. However, IFN production and control of viral replication did not seem to be significantly affected for the patient carrying only one heterozygous mutation (p.M307V) in POLR3A. [Load More]