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Results 1 - 10 of 33 for altered potassium channel function
  1. KCNE1 gene 
    ... which disrupts the protein's normal structure. An altered KCNE1 protein cannot regulate the flow of potassium ions through channels in the inner ear and cardiac muscle. This loss of channel function leads to the arrhythmia and hearing loss characteristic ...
    https://medlineplus.gov/genetics/gene/kcne1 - Genetics
  2. KCNB1 encephalopathy 
    ... mutations that cause KCNB1 encephalopathy lead to an altered protein that results in impaired Kv2.1 channel function. As a result, the channels cannot regulate the flow of potassium ions in neurons, which disrupts normal communication between ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  3. Cantú syndrome 
    ... closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the ... is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  4. KCTD1 gene 
    ... the KCTD1 protein and impair its transcriptional repressor function. This impairment ... channel tetramerisation domain containing 1 potassium channel tetramerization domain- ...
    https://medlineplus.gov/genetics/gene/kctd1 - Genetics
  5. Potassium-aggravated myotonia 
    ... the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. When excess potassium is present in the body, which occurs after ...
    https://medlineplus.gov/.../condition/potassium-aggravated-myotonia - Genetics
  6. Hyperkalemic periodic paralysis 
    ... the SCN4A gene alter the usual structure and function of sodium channels. ... release of potassium from muscle cells, which causes more sodium channels ...
    https://medlineplus.gov/.../hyperkalemic-periodic-paralysis - Genetics
  7. KCNK9 gene 
    ... 80 percent. Research suggests that certain neurons with altered TASK3 channels are ... acid-sensitive potassium channel protein TASK-3 K2p9.1 KT3.2 ...
    https://medlineplus.gov/genetics/gene/kcnk9 - Genetics
  8. KCNJ5 gene 
    ... blocks (amino acids) in the potassium channel. The altered potassium channels are less selective, allowing other ions, particularly sodium, ... on PubMed Central Stowasser M. Primary aldosteronism and potassium ... abstract available. Citation on PubMed
    https://medlineplus.gov/genetics/gene/kcnj5 - Genetics
  9. KCNA1 gene 
    ... J. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J Neurosci. 1998 Apr 15;18(8):2842-8. doi: 10.1523/JNEUROSCI.18-08-02842.1998. Citation on PubMed
    https://medlineplus.gov/genetics/gene/kcna1 - Genetics
  10. KCNT1 gene 
    ... what effects these protein changes have on the function of potassium channels or how they lead to the features of ... the KCNT1 protein. The electrical currents generated by potassium channels made with the altered KCNT1 protein are abnormally increased, as though the ...
    https://medlineplus.gov/genetics/gene/kcnt1 - Genetics
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