URAHP

pseudo

urate (hydroxyiso-) hydrolase, pseudogene

Gene summary

Predicted to enable hydroxyisourate hydrolase activity. Predicted to be involved in nucleobase-containing small molecule metabolic process and urate catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

N/A

Inheritance

—

ClinVar variants

B:1

Top phenotype

Primary ciliary dyskinesia 33

Max pathogenic AF

—

Genomic locus

chr16:90,043,914-90,047,597

External References & Databases

Ensembl (ENSG00000222019)

NCBI Gene (100130015)

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 URAHP variants in ClinVar

4 Conditions Cataloged

Primary ciliary dyskinesia 33Total: 72

not providedTotal: 29

Inborn genetic diseasesTotal: 7

not specifiedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar		1
Total	0	0	0	1	0	1

Highest pathogenic variant AF is 0.00000656961

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N