NEPRO
Chr 3ARnucleolus and neural progenitor protein
NEPRO encodes a component of the MRP ribonucleoprotein complex involved in pre-rRNA processing and may regulate cortex development through the Notch signaling pathway by inhibiting neuronal differentiation. Biallelic mutations cause anauxetic dysplasia 3, an autosomal recessive skeletal dysplasia syndrome. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance.
Some data sources returned errors (2)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEPRO · 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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Links to major genomics databases and tools