ARMCX4

Chr X

armadillo repeat containing X-linked 4

Also known as: CXorf35, GASP4

NCBI Gene: 100131755 ENSG00000196440 UniProt: Q5H9R4

ARMCX4 encodes an armadillo repeat-containing protein that interacts with other proteins in various cellular processes, though its specific function remains unknown. Mutations cause X-linked intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.12), suggesting intolerance to protein loss.

ResearchSummary from RefSeq

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

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

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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