Gene: POLR1D

Alternate names for this Gene: AC19|POLR1C|RPA16|RPA9|RPAC2|RPC16|RPO1-3|TCS2

Gene Summary: The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.2

Description of this Gene: RNA polymerase I and III subunit D

Type of Gene: protein-coding

rs10492484 in POLR1D 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.

rs77734239 in POLR1D gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.