SUN1

Chr 7

Sad1 and UNC84 domain containing 1

Also known as: UNC84A

NCBI Gene: 23353 ENSG00000164828 UniProt: O94901

The SUN1 protein is a nuclear envelope component that connects the nuclear lamina to the cytoskeleton and is essential for nuclear migration during brain development, particularly for radial neuronal migration in the cerebral cortex. Mutations in SUN1 cause autosomal recessive arthrogryposis multiplex congenita with seizures and intellectual disability, reflecting its critical role in neuronal positioning during development. The gene is highly constrained against loss-of-function variants, indicating that complete loss of SUN1 function is likely incompatible with normal development.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]

GeneReviews ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

Mechanism· predicted

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GeneReview available — SUN1