RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
Normal Function
Health Conditions Related to Genetic Changes
RAB18 deficiency
More than 60 RAB3GAP1 gene mutations have been found to cause RAB18 deficiency, resulting in conditions that affect the eyes, brain, and reproductive system. The two conditions caused by this deficiency are Warburg micro syndrome at the severe end of the spectrum and Martsolf syndrome at the mild end. RAB3GAP1 gene mutations are the most common cause of Warburg micro syndrome and are rare in Martsolf syndrome.
Warburg micro syndrome is caused by RAB3GAP1 gene mutations that prevent the production of any RAB3GAP1 protein or completely eliminate its function. Martsolf syndrome occurs when a small amount of functional RAB3GAP1 protein is produced from the mutated gene. Reduction or loss of this protein likely impairs the formation or function of the RAB3GAP complex, leading to a shortage (deficiency) of RAB18 activity. It is unclear why the loss of RAB18 function leads to eye problems, brain abnormalities, and other features of these two conditions.
Because Warburg micro syndrome and Martsolf syndrome can be caused by mutations in other genes that disrupt normal RAB18 activity, loss of control of this GTPase is thought to underlie the conditions. It is unclear if impaired regulation of RAB3 activity contributes to the features of Warburg micro syndrome or Martsolf syndrome.
More About This Health ConditionRelated Conditions
RAB18 deficiencyColobomaKeratoconus
Health Conditions Related to Genetic Changes
More than 60 RAB3GAP1 gene mutations have been found to cause RAB18 deficiency, resulting in conditions that affect the eyes, brain, and reproductive system. The two conditions caused by this deficiency are Warburg micro syndrome at the severe end of the spectrum and Martsolf syndrome at the mild end. RAB3GAP1 gene mutations are the most common cause of Warburg micro syndrome and are rare in Martsolf syndrome.
Warburg micro syndrome is caused by RAB3GAP1 gene mutations that prevent the production of any RAB3GAP1 protein or completely eliminate its function. Martsolf syndrome occurs when a small amount of functional RAB3GAP1 protein is produced from the mutated gene. Reduction or loss of this protein likely impairs the formation or function of the RAB3GAP complex, leading to a shortage (deficiency) of RAB18 activity. It is unclear why the loss of RAB18 function leads to eye problems, brain abnormalities, and other features of these two conditions.
Because Warburg micro syndrome and Martsolf syndrome can be caused by mutations in other genes that disrupt normal RAB18 activity, loss of control of this GTPase is thought to underlie the conditions. It is unclear if impaired regulation of RAB3 activity contributes to the features of Warburg micro syndrome or Martsolf syndrome.
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