ORAI1
Description
The ORAI1 gene provides instructions for making a protein called ORAI1, a crucial component of calcium channels in the cell membrane. These channels play a vital role in the influx of calcium ions into the cell, a process that triggers various cellular functions, including muscle contraction, neurotransmitter release, and hormone secretion. The ORAI1 gene is essential for normal cellular function and its dysfunction can lead to a range of health problems.
Associated Diseases
- Stromal Hyperplasia with Immunodeficiency (SHWI)
- Severe Combined Immunodeficiency (SCID)
- Hypoparathyroidism
- Myopathy
- Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) syndrome
- Infantile-onset multifocal leukoencephalopathy with progressive ataxia (IMLPA)
Did you know?
Mutations in the ORAI1 gene can lead to a rare but severe immunodeficiency disorder called Stormorken syndrome, characterized by recurrent infections and autoimmune complications.
