Gene: POLR3A

Alternate names for this Gene: ADDH|C160|HLD7|RPC1|RPC155|WDRTS|hRPC155

Gene Summary: The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.3

Description of this Gene: RNA polymerase III subunit A

Type of Gene: protein-coding

rs2559658 in POLR3A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3213833 in POLR3A gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16935509 in POLR3A gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1217230904 in POLR3A gene and Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism PMID 22036171 2011 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

PMID 21855841 2011 Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

PMID 23694757 2014 Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.

PMID 23355746 2013 Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

PMID 614258 1977 Clear cell sarcoma of tendons and aponeurosis--a case report.

rs3213833 in POLR3A gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1168641193 in POLR3A gene and Wiedemann-Rautenstrauch syndrome PMID 30414627 2018 Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

PMID 30323018 2018 Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

PMID 27612211 2016 Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

PMID 30450527 2018 Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.