URAD

protein-coding

ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase

Gene summary

Predicted to enable 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase activity. Predicted to be involved in allantoin metabolic process and purine nucleobase metabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

PRHOXNB

MANE transcript

NM_001105577.2

Inheritance

—

ClinVar variants

U:38B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.13

Max pathogenic AF

—

Genomic locus

chr13:27,977,717-27,988,693

External References & Databases

Ensembl (ENSG00000183463)

Transcript & Mutation Effects

hg38 • Region Span ~11.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to URAD variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 38

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001105577.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			38 clinvar	1 clinvar		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	0	39

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001105577.2	RefSeq	NP_001099047.1	2	MANE Select
ENST00000332715.6	Ensembl	ENSP00000333490.4	2	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Purine metabolism - Homo sapiens (human)

Biological Process

purine nucleobase metabolic process
biological_process
allantoin biosynthetic process
urate catabolic process

Molecular Function

carboxy-lyase activity

Cellular Component

cellular_component
peroxisome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000332715
Coding exons: 2
Length: 10941
Individuals with no LoFs: 124608
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 124616
p: 0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.360	71	63.0	1.13	0.00000305	1058
Missense (PolyPhen)		21	18.111	1.1595		331
Synonymous	1.12	19	26.3	0.723	0.00000125	359
Loss of Function	-0.203	3	2.64	1.13	1.13e-7	47

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000068	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000059	0.000056	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000036	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the stereoselective decarboxylation of 2-oxo- 4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin. {ECO:0000305}.;

Recessive Scores

pRec: 0.0978

Essentials

Essential (CRISPR): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	High	Medium	High