Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
PNRIID
Chr 21ARminichromosome maintenance complex component 3 associated protein
Also known as: GANP, MAP80, PNRIID, SAC3
The protein encoded by PNRIID is an acetyltransferase that acetylates MCM3 and functions in DNA replication, while also facilitating MCM3 nuclear localization. Mutations cause autosomal recessive peripheral neuropathy with or without intellectual disability. The gene is expressed in brain and neuronal tissue, and patients may present with mild intellectual disability along with peripheral nervous system involvement.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PNRIID?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PNRIID · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools