DLG1

Chr 3

discs large MAGUK scaffold protein 1

Also known as: DLGH1, SAP-97, SAP97, hdlg

NCBI Gene: 1739 ENSG00000075711 UniProt: Q12959

This gene encodes an essential multidomain scaffolding protein that recruits channels, receptors and signaling molecules to discrete plasma membrane domains and maintains cell-cell adhesion in polarized cells. Mutations cause intellectual disability with seizures, and the gene shows autosomal dominant inheritance. The gene is highly constrained against loss-of-function mutations, reflecting its critical role in normal development and neuronal function.

ResearchSummary from RefSeq, UniProt

This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]

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)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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