Features include always present findings: Miosis, Hypocalcemia, Ankle flexion contracture, and Muscle weakness and others; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Generalized muscle weakness. 12 total HPO annotations.

ORAI1 encodes ORAI calcium release-activated calcium modulator 1 (685 aa). Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels. Highest expression in Skin Sun Exposed Lower leg (78.2 TPM) and Skin Not Sun Exposed Suprapubic (72.9 TPM).

Myopathy, tubular aggregate, 2 is associated with mutations in the ORAI1 gene on chromosome 12.

The ORAI1 protein participates in STIM1 activation of CRAC, STIM1 oligomerizes, and TRPC1 translocates calcium from the extracellular region to the cytosol pathways.

ORAI1 is classified as a druggable target (Ion Channel, Transcription Factor, and Transporter categories) with score 0.0.

Genetic testing for ORAI1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, tubular aggregate, 2 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 2 very common features.

No clinical trials have been registered for myopathy, tubular aggregate, 2.

68 publications have been identified in PubMed for myopathy, tubular aggregate, 2. Research spans Basic Science / Preclinical (47%), Case Report / Case Series (18%), and Review / Meta-Analysis (16%).