scn4 gene
Understand the Problem
The question is asking for information about the SCN4 gene, which is related to its function and significance in genetics or biology. This suggests that the user is looking for knowledge regarding this specific gene.
Answer
SCN4A encodes the Nav1.4 sodium channel, crucial for muscle contraction; mutations cause disorders like Paramyotonia Congenita.
The SCN4A gene encodes the alpha subunit of the skeletal muscle sodium channel Nav1.4, which is essential for muscle contraction. Mutations in this gene can cause various neuromuscular disorders, including Paramyotonia Congenita and Hyperkalemic Periodic Paralysis.
Answer for screen readers
The SCN4A gene encodes the alpha subunit of the skeletal muscle sodium channel Nav1.4, which is essential for muscle contraction. Mutations in this gene can cause various neuromuscular disorders, including Paramyotonia Congenita and Hyperkalemic Periodic Paralysis.
More Information
The SCN4A gene is vital for proper sodium channel functioning in skeletal muscles, playing a critical role in muscle movement and stability. Disruptions can lead to a range of muscle-related pathologies.
Sources
- SCN4A gene: MedlinePlus Genetics - medlineplus.gov
- SCN4A sodium voltage-gated channel alpha subunit 4 [ (human)] - ncbi.nlm.nih.gov
- 603967 - SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT ... - omim.org
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