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PHRINL
Chr 1ARATPase family AAA domain containing 3A
Also known as: HAYOS, PHRINL
The protein is a mitochondrial membrane protein that regulates mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. Mutations cause pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, a neonatal lethal condition also known as Harel-Yoon syndrome. The disorder follows autosomal recessive inheritance with severe neonatal onset affecting the brain, muscle tone, and respiratory system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PHRINL?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
PHRINL · 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