SNX27

Chr 1

sorting nexin 27

Also known as: DADAND, MRT1, MY014

NCBI Gene: 81609 ENSG00000143376 UniProt: Q96L92

The SNX27 protein regulates retrograde transport from endosomes to the plasma membrane, directing the recycling of internalized transmembrane proteins that contain PDZ-binding motifs and preventing their degradation in lysosomes. Mutations cause autosomal recessive intellectual disability with seizures and behavioral abnormalities, typically presenting in early childhood. SNX27 is highly constrained against loss-of-function variants, indicating that proper protein function is essential for normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]

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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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