FXYD1

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fxyd1: A Gene with Intriguing Roles in Health and Disease

Description:

fxyd1 (FXYD domain-containing ion transport regulator 1) is a gene that encodes a protein involved in regulating various ion channels in the body. It plays crucial roles in ion transport, cell signaling, and the function of excitable tissues.

Associated Diseases:

Alterations in fxyd1 have been linked to several human diseases, including:

• Cardiac arrhythmias: fxyd1 mutations can disrupt ion channel function in the heart, leading to irregular heart rhythms.
• Sensorineural hearing loss: fxyd1 variants have been associated with hearing loss, likely due to its role in ion transport in the inner ear.
• Intellectual disability and autism spectrum disorder: fxyd1 mutations have been identified in individuals with intellectual disability and autism spectrum disorder, suggesting its involvement in brain development.

Did you Know ?

Approximately 1 in 10,000 individuals worldwide carry a mutation in fxyd1, highlighting its prevalence and potential significance in human health.