rs377594542
This variant is located in the UROC1 gene.
▶ClinVar annotation
About UROC1
This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]
View all UROC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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