LETM1
leucine zipper and EF-hand containing transmembrane protein 1
Normal Function
Health Conditions Related to Genetic Changes
Wolf-Hirschhorn syndrome
The LETM1 gene is located in a region of chromosome 4 that is deleted in people with the typical features of Wolf-Hirschhorn syndrome. The features of this condition include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
As a result of this deletion in chromosome 4, affected individuals are missing one copy of the LETM1 gene in each cell. Studies suggest that a loss of this gene alters the structure of mitochondria; however, it is unclear how this abnormality is related to the signs and symptoms of Wolf-Hirschhorn syndrome. The deletion of the LETM1 gene and other nearby genes can cause seizures or other abnormal electrical activity in the brain.
More About This Health ConditionRelated Conditions
Wolf-Hirschhorn syndrome
Health Conditions Related to Genetic Changes
The LETM1 gene is located in a region of chromosome 4 that is deleted in people with the typical features of Wolf-Hirschhorn syndrome. The features of this condition include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
As a result of this deletion in chromosome 4, affected individuals are missing one copy of the LETM1 gene in each cell. Studies suggest that a loss of this gene alters the structure of mitochondria; however, it is unclear how this abnormality is related to the signs and symptoms of Wolf-Hirschhorn syndrome. The deletion of the LETM1 gene and other nearby genes can cause seizures or other abnormal electrical activity in the brain.