catalog number :
MBS9326870
products type :
ELISA Kit
products full name :
Human Urocanate hydratase, UROC1 ELISA Kit
products short name :
urocanase domain containing 1
products name syn :
Human Urocanate hydratase (UROC1) ELISA kit; FLJ31300; HMFN0320; MGC135007; MGC135008; imidazolonepropionate hydrolase; urocanase domain containing 1
other names :
urocanate hydratase isoform 2; Urocanate hydratase; urocanate hydratase; urocanase 1; urocanase domain containing 1; imidazolonepropionate hydrolase; urocanate hydratase 1; Imidazolonepropionate hydrolase
products gene name :
UROC1
other gene names :
UROC1; UROC1; HMFN0320; Urocanase
uniprot entry name :
HUTU_HUMAN
storage stability :
Store all reagents at 2-8 degree C
ncbi acc num :
NP_001159446.1
ncbi gb acc num :
NM_001165974.1
ncbi mol weight :
80,912 Da
ncbi pathways :
Histidine Catabolism Pathway (106186); Histidine Metabolism Pathway (82958); Histidine Metabolism Pathway (324); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Histidine Degradation III Pathway (142356); Histidine Degradation VI Pathway (547503)
ncbi 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 mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
uniprot summary :
UROC1: Defects in UROC1 are a cause of urocanase deficiency (UROD). An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking. Belongs to the urocanase family. Protein type: Amino Acid Metabolism - histidine; Lyase; EC 4.2.1.49. Chromosomal Location of Human Ortholog: 3q21.3. Cellular Component: cytosol. Molecular Function: urocanate hydratase activity. Biological Process: histidine catabolic process to glutamate and formamide; histidine catabolic process; histidine catabolic process to glutamate and formate. Disease: Urocanase Deficiency