ARMCX3

Chr X

armadillo repeat containing X-linked 3

Also known as: ALEX3, GASP6, dJ545K15.2

NCBI Gene: 51566 ENSG00000102401 UniProt: Q9UH62

ARMCX3 encodes a protein that regulates mitochondrial transport and aggregation in axons by linking mitochondria to the TRAK2-kinesin motor complex, and enhances SOX10-mediated transactivation of neuronal acetylcholine receptor subunit genes. Mutations cause X-linked intellectual disability with variable neurological features. This X-linked gene follows typical X-linked inheritance patterns with affected males and carrier females who may have milder manifestations.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [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

0.84

LOEUF

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Mechanism

Some data sources returned errors (1)

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