Gene: UMPS

Alternate names for this Gene: OPRT

Gene Summary: This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.2

Description of this Gene: uridine monophosphate synthetase

Type of Gene: protein-coding

Gene: MIR544B

Alternate names for this Gene: -

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.2

Description of this Gene: microRNA 544b

Type of Gene: ncRNA

rs4678145 in UMPS;MIR544B gene and Carpal Tunnel Syndrome PMID 30833571 2019 A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

rs4678145 in UMPS;MIR544B gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.