Gene: DHODH

Alternate names for this Gene: DHOdehase|POADS|URA1

Gene Summary: The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.2

Description of this Gene: dihydroorotate dehydrogenase (quinone)

Type of Gene: protein-coding

rs11864453 in DHODH gene and Fibrinogen assay PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

rs201230446 in DHODH gene and Genee-Wiedemann syndrome PMID 21346561 2011 Extra phenotypic features in a girl with Miller syndrome.

PMID 22692683 2012 Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

PMID 22967083 2012 In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype.

PMID 19915526 2010 Exome sequencing identifies the cause of a mendelian disorder.

rs11648003 in DHODH gene and Low density lipoprotein cholesterol measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs8057016 in DHODH gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs11648003 in DHODH gene and Serum total cholesterol measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.