NDN

Chr 15

necdin, MAGE family member

Also known as: HsT16328, PWCR

NCBI Gene: 4692 ENSG00000182636 UniProt: Q99608 OMIM: 602117

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.

OMIM ResearchSummary from RefSeq, UniProt

This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

—

Mechanism