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UROC1

Synonyms
HMFN0320, UROCD
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
47
Likely pathogenic
179
VUS
10,648
Likely benign
4,249
Benign
276

Patient phenotypes

Proportions of phenotypes among 225 patients carrying pathogenic or likely pathogenic variants on UROC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
49.8%
Abnormality of the musculoskeletal system
38.2%
Abnormality of head or neck
34.7%
Abnormality of the eye
24.4%
Abnormality of the integument
23.6%
Abnormality of the cardiovascular system
22.2%
Growth abnormality
20.4%
Abnormality of limbs
20%
Abnormality of the ear
13.8%
Abnormality of the immune system
12.9%
Abnormality of the genitourinary system
11.1%
Abnormality of the digestive system
10.7%
Abnormality of blood and blood-forming tissues
7.6%
Abnormality of the respiratory system
6.2%
Abnormality of the endocrine system
3.6%
Abnormality of the breast
2.2%
Abnormality of prenatal development or birth
1.3%
Abnormal cellular phenotype
0.9%
Constitutional symptom
0.9%
Neoplasm
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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