Urocanase Domain-Containing Protein 1

Alternative Names

  • UROC1
  • Urocanase

Associated Diseases

Urocanase Deficiency
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OMIM Number

613012

NCBI Gene ID

131669

Uniprot ID

Q96N76

Length

36,609 bases

No. of Exons

21

No. of isoforms

2

Protein Name

Urocanate hydratase

Molecular Mass

74831 Da

Amino Acid Count

676

Genomic Location

chr3:126,481,165-126,517,773

Gene Map Locus
3q21.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_144639.3:c.855G>AUnited Arab EmiratesNC_000003.12:g.126504042C>TPathogenicPathogenicUrocanase DeficiencyNG_016286.1:g.18710G>A; NM_144639.3:c.855G>A; NP_653240.1:p.Trp285Ter781621925973482
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