RAB18
RAB18, member RAS oncogene family
Normal Function
Health Conditions Related to Genetic Changes
RAB18 deficiency
At least five mutations in the RAB18 gene have been found to cause Warburg micro syndrome, which is the most severe of the disorders caused by RAB18 deficiency. Warburg micro syndrome is characterized by multiple eye abnormalities, vision impairment, severe intellectual disability, and a reduction of the hormones that direct sexual development (hypogonadotropic hypogonadism).
The RAB18 gene mutations that cause Warburg micro syndrome eliminate the function of the RAB18 protein. It is unclear how a shortage (deficiency) of RAB18 activity leads to eye problems, brain abnormalities, and other features of Warburg micro syndrome.
More About This Health ConditionRelated Conditions
RAB18 deficiency
Health Conditions Related to Genetic Changes
At least five mutations in the RAB18 gene have been found to cause Warburg micro syndrome, which is the most severe of the disorders caused by RAB18 deficiency. Warburg micro syndrome is characterized by multiple eye abnormalities, vision impairment, severe intellectual disability, and a reduction of the hormones that direct sexual development (hypogonadotropic hypogonadism).
The RAB18 gene mutations that cause Warburg micro syndrome eliminate the function of the RAB18 protein. It is unclear how a shortage (deficiency) of RAB18 activity leads to eye problems, brain abnormalities, and other features of Warburg micro syndrome.