TRIML1

Chr 4

tripartite motif family like 1

Also known as: RNF209

NCBI Gene: 339976 ENSG00000184108 UniProt: Q8N9V2

The protein functions as a probable E3 ubiquitin-protein ligase that plays an important role in early embryonic development, specifically blastocyst development. Mutations in TRIML1 cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, presenting in early infancy with seizures and severe developmental delays. This gene is highly intolerant to loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)