NDC1

Chr 1

NDC1 transmembrane nucleoporin

Also known as: NEDAPA, NET3, TMEM48

NCBI Gene: 55706 ENSG00000058804 UniProt: Q9BTX1

NDC1 encodes a component of the nuclear pore complex that is required for nuclear pore assembly and anchoring in the nuclear envelope membrane. Mutations cause a neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants, indicating its essential cellular role.

ResearchSummary from RefSeq, OMIM, UniProt

A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with achalasia, polyneuropathy, and alacrima

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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