NDN
Chr 15necdin, MAGE family member
Also known as: HsT16328, PWCR
Necdin functions as a growth suppressor that facilitates cell cycle arrest in postmitotic neurons and acts as a transcription factor that binds to guanosine-rich DNA sequences. Mutations cause Prader-Willi syndrome, a complex neurodevelopmental disorder with neonatal hypotonia, feeding difficulties, hyperphagia, intellectual disability, and behavioral problems. The gene shows paternal-only expression due to genomic imprinting, so disease occurs through paternal deletions or maternal uniparental disomy of the 15q11-q13 region.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDN · 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
External Resources
Links to major genomics databases and tools