Question 2: lon channels are the key to cell signaling in the body. The voltage gated calcium channels discussed in question one are a part of that. These systems are in delicate balance, keeping ion concentrations around the cell at a specific level so that an electrical signal can travel, in this case, down a skeletal muscle, and cause a contraction. Both hypokalemic (too few ions) periodic paralysis and hyperkalemic (too many ions) periodic paralysis are caused by mutations to the CACNA1S gene. If a mutation created a hyperkalemic periodic paralysis phenotype, that mutation could be characterized as for the CACNA1s gene A. Gain of Function B. Loss of Function C. Null D. Silent If a mutation created a hypokalemic periodic paralysis phenotype, that mutation could be characterized as for the CACNA1s gene A. Gain of Function B. Loss of Function C. Null D. Silent

Human Physiology: From Cells to Systems (MindTap Course List)
9th Edition
ISBN:9781285866932
Author:Lauralee Sherwood
Publisher:Lauralee Sherwood
Chapter7: The Peripheral Nervous System: Efferent Division
Section: Chapter Questions
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Question 2: lon channels are the key to cell signaling in the body. The voltage
gated calcium channels discussed in question one are a part of that. These
systems are in delicate balance, keeping ion concentrations around the cell at a
specific level so that an electrical signal can travel, in this case, down a skeletal
muscle, and cause a contraction. Both hypokalemic (too few ions) periodic
paralysis and hyperkalemic (too many ions) periodic paralysis are caused by
mutations to the CACNA1S gene.
If a mutation created a hyperkalemic periodic paralysis phenotype, that mutation
could be characterized as
for the CACNA1s gene
A. Gain of Function
B. Loss of Function
C. Null
D. Silent
If a mutation created a hypokalemic periodic paralysis phenotype, that mutation
could be characterized as
for the CACNA1s gene
A. Gain of Function
B. Loss of Function
C. Null
D. Silent
Transcribed Image Text:Question 2: lon channels are the key to cell signaling in the body. The voltage gated calcium channels discussed in question one are a part of that. These systems are in delicate balance, keeping ion concentrations around the cell at a specific level so that an electrical signal can travel, in this case, down a skeletal muscle, and cause a contraction. Both hypokalemic (too few ions) periodic paralysis and hyperkalemic (too many ions) periodic paralysis are caused by mutations to the CACNA1S gene. If a mutation created a hyperkalemic periodic paralysis phenotype, that mutation could be characterized as for the CACNA1s gene A. Gain of Function B. Loss of Function C. Null D. Silent If a mutation created a hypokalemic periodic paralysis phenotype, that mutation could be characterized as for the CACNA1s gene A. Gain of Function B. Loss of Function C. Null D. Silent
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