UROC1 gene

urocanate hydratase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

From NCBI Gene:

  • Urocanate hydratase deficiency

From UniProt:

Urocanase deficiency (UROCD): An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking. [MIM:276880]

Cytogenetic Location: 3q21.3, which is the long (q) arm of chromosome 3 at position 21.3

Molecular Location: base pairs 126,481,165 to 126,517,773 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q21.3, which is the long (q) arm of chromosome 3 at position 21.3
  • HMFN0320
  • UROCD