Gene: UROC1

Alternate names for this Gene: HMFN0320|UROCD

Gene Summary: This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3

Description of this Gene: urocanate hydratase 1

Type of Gene: protein-coding

rs777513 in UROC1 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1687482 in UROC1 gene and Brain Waves PMID 28040410 2017 A genome wide association study of fast beta EEG in families of European ancestry.

rs190321959 in UROC1 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs137852795 in UROC1 gene and Urocanase deficiency PMID 19304569 2009 This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.

PMID 19304569 2009 This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia.