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HIDEA
Chr 3ARprolyl 4-hydroxylase, transmembrane
Also known as: EGLN4, HIDEA, HIFPH4, P4H-TM, PH-4, PH4, PHD4
HIDEA encodes a prolyl 4-hydroxylase that hydroxylates prolyl residues and is involved in cellular oxygen sensing and adaptation to hypoxia. Autosomal recessive mutations cause a multisystem disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities. This condition affects multiple organ systems including the nervous system, respiratory system, and eyes.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HIDEA?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
HIDEA · 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
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Links to major genomics databases and tools