ARMCX2

Chr X

armadillo repeat containing X-linked 2

Also known as: ALEX2, GASP9

NCBI Gene: 9823 ENSG00000184867 UniProt: Q7L311

This protein contains multiple armadillo repeats and may regulate mitochondrial dynamics and distribution in neural cells. Mutations cause X-linked intellectual disability, and the gene shows significant constraint against loss-of-function variants (LOEUF 0.58). The gene follows X-linked inheritance patterns.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

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

0.58

LOEUF

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Mechanism

Some data sources returned errors (1)

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