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NEDMVIC
Chr 19ARdeoxyhypusine hydroxylase
Also known as: HLRC1, NEDMVIC, hDOHH
The encoded metalloenzyme catalyzes the final step in hypusine synthesis by hydroxylating deoxyhypusine in eukaryotic initiation factor 5A, which is essential for protein synthesis. Biallelic mutations cause a neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment with autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDMVIC?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
NEDMVIC · 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.
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External Resources
Links to major genomics databases and tools