TMEM204

Chr 16

transmembrane protein 204

Also known as: C16orf30, CLP24

NCBI Gene: 79652 ENSG00000131634 UniProt: Q9BSN7

The TMEM204 protein regulates paracellular permeability and participates in cell-cell interactions through adherens junctions. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, which typically presents in infancy with seizures and developmental delays. This gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.

ResearchSummary from RefSeq, UniProt

C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 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

0.38

LOEUF

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Mechanism

Some data sources returned errors (1)

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