HIVEP2

This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation.

Intellectual developmental disorder, autosomal dominant 43

MRD43

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features.

None

The disease is caused by variants affecting the gene represented in this entry.

Expressed in brain and skeletal muscle.

• Nucleus

Transcription factor HIVEP2, Human immunodeficiency virus type I enhancer-binding protein 2, MHC-binding protein 2, HIV-EP2, MBP-2, HIVEP2

• entrezGene:3097
• omim:143054
• swissprot:P31629

Proteins

269053Da