human immunodeficiency virus type I enhancer binding protein 2
The HIVEP2 gene provides instructions for making a protein that functions as a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help control the activity (expression) of particular genes. The HIVEP2 protein is most abundant in the brain, where it controls the expression of multiple genes, many of which are involved in brain growth and development. This protein may also play a role in the function of immune system cells and the process of bone remodeling, in which old bone is broken down and new bone is created to replace it. It may also be involved in other body processes; however these additional roles are not completely understood.
At least nine mutations in the HIVEP2 gene have been found in individuals with a neurological disorder called HIVEP2-related intellectual disability. This condition is characterized by delayed development of speech and walking, moderate to severe intellectual disability, mild physical abnormalities (dysmorphic features), and weak muscle tone (hypotonia), among other features. The HIVEP2 gene mutations are thought to lead to a shortage of functional HIVEP2 protein. It is unclear how these genetic changes result in the features associated with HIVEP2-related intellectual disability, although researchers speculate that a shortage of the HIVEP2 protein alters the expression of several genes involved in brain growth and development. Abnormalities in the growth and development of the brain likely underlie the cognitive problems and other neurological features of HIVEP2-related intellectual disability. It is unclear how HIVEP2 gene mutations contribute to the unusual physical features and health problems that can occur with this condition.
- c-myc intron binding protein 1
- MHC binding protein-2