ARMC3

Chr 10

armadillo repeat containing 3

Also known as: CT81, KU-CT-1, VAC8

NCBI Gene: 219681 ENSG00000165309 UniProt: Q5W041 OMIM: 611226

ARMC3 encodes a protein essential for male fertility and sperm motility that promotes autophagic degradation of ribosomes during spermatogenesis to provide energy for mitochondria. Mutations cause primary ciliary dyskinesia, an autosomal recessive disorder affecting respiratory cilia and sperm flagella, leading to chronic respiratory infections, bronchiectasis, and male infertility. The gene shows very low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.91

LOEUF

Mechanism· predicted