Entity Details

Primary name DHODH
Entity type gene
Source Source Link

Details

PrimaryID1723
RefseqGeneNG_016271
SymbolDHODH
Namedihydroorotate dehydrogenase (quinone)
Chromosome16
Location16q22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPYRD_HUMAN

GO terms

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GOName
GO:0004152 dihydroorotate dehydrogenase activity
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005829 cytosol
GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process
GO:0007565 female pregnancy
GO:0007595 lactation
GO:0009220 pyrimidine ribonucleotide biosynthetic process
GO:0010181 FMN binding
GO:0016021 integral component of membrane
GO:0031000 response to caffeine
GO:0042493 response to drug
GO:0042594 response to starvation
GO:0043025 neuronal cell body
GO:0043065 positive regulation of apoptotic process
GO:0044205 'de novo' UMP biosynthetic process
GO:0046134 pyrimidine nucleoside biosynthetic process
GO:0048039 ubiquinone binding
GO:0090140 regulation of mitochondrial fission
GO:1903576 response to L-arginine

Diseases

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Disease IDSourceNameDescription
263750 OMIMPostaxial acrofacial dysostosis (POADS)POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. The disease is caused by variants affecting the gene represented in this entry.