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STIM1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

STIM1 gene

The STIM1 gene plays a critical role in controlling calcium levels within cells, which is essential for immune function, muscle contraction, and cell growth.

Overview

The STIM1 gene (stromal interaction molecule 1) provides instructions for making the STIM1 protein. This protein controls the entry of calcium ions into cells through calcium-release activated calcium (CRAC) channels. STIM1 is located in the membrane of the endoplasmic reticulum (ER), where it senses low calcium levels and triggers the opening of CRAC channels in the cell membrane. This process regulates gene activity, cell growth, and immune function. In muscle cells, STIM1 is found in the sarcoplasmic reticulum, where it helps manage calcium storage and release to facilitate muscle contraction.

Health Conditions Related to Genetic Changes

Stormorken syndrome

A "gain-of-function" mutation in the STIM1 gene causes Stormorken syndrome. This mutation (specifically Arg304Trp) keeps the STIM1 protein in a constantly active state, leading to continuous calcium entry. This results in:

  • Thrombocytopenia (low platelet count) and bleeding problems.
  • Tubular aggregate myopathy (a muscle disorder).

Tubular aggregate myopathy

At least five gain-of-function mutations in STIM1 cause tubular aggregate myopathy without the other features of Stormorken syndrome. These mutations lead to the buildup of protein clumps (tubular aggregates) in muscle cells, causing progressive muscle pain, cramping, or weakness.

Primary immunodeficiency 10

"Loss-of-function" mutations in the STIM1 gene cause primary immunodeficiency 10. These mutations reduce or eliminate STIM1 function, impairing calcium flow through CRAC channels and hindering the immune system's ability to fight infections.

Other Names

  • D11S4896E
  • GOK
  • IMD10
  • STRMK
  • TAM
  • TAM1

Frequently Asked Questions

Diagnosis usually starts with a detailed clinical evaluation (platelet count, muscle weakness, infection history) followed by targeted genetic testing of the STIM1 gene. Sequencing can identify gain‑of‑function variants (e.g., Arg304Trp) linked to Stormorken syndrome or loss‑of‑function mutations causing primary immunodeficiency. In some centers, functional assays measuring calcium influx in patient‑derived lymphocytes or muscle biopsies may be performed to corroborate the genetic result.
These patients have impaired CRAC‑channel function, leading to poor T‑cell activation. Prophylactic antibiotics (e.g., trimethoprim‑sulfamethoxazole for Pneumocystis jirovecii) and regular immunizations (excluding live vaccines) are recommended. Immunoglobulin replacement therapy (IVIG) can be considered for recurrent bacterial infections, and families should be educated on early signs of sepsis and when to seek emergency care.
Patients with low platelet counts are at risk for serious bleeding; urgent care is needed for unexplained bruising, nosebleeds that do not stop, gum bleeding, blood in urine or stool, or any head injury with possible intracranial hemorrhage. Prompt evaluation can include platelet transfusion, hemostatic agents, and assessment for underlying infection or trauma.
Management is largely supportive. Physical therapy can help maintain strength and range of motion, while low‑dose calcium channel blockers (e.g., diltiazem) have been tried off‑label to reduce calcium overload in muscle fibers. Pain control with acetaminophen or NSAIDs (if platelet count permits) is common, and experimental trials of gene‑silencing approaches are ongoing but not yet standard care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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