ADPRHL1
Chr 13ADP-ribosylhydrolase like 1
ADPRHL1 encodes an ADP-ribosylhydrolase that is required for myofibril assembly and cardiac chamber development, though it appears to be catalytically inactive against typical substrates. Mutations cause autosomal recessive neurodevelopmental disorder with spastic paraplegia and thin corpus callosum, affecting both the nervous system and cardiac development. This gene is highly constrained against loss-of-function variants in the population.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADPRHL1 · 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 →External Resources
Links to major genomics databases and tools