EHD4

EHD4, also known as EHD domain-containing protein 4, is a protein that in humans is encoded by the EHD4 gene. This gene is located on chromosome 19q13.3. EHD4 is a member of the EHD (Eps15 homology domain) family of proteins, which are involved in various cellular processes, including cell cycle regulation, DNA repair, and transcription.

The EHD4 protein contains an EHD domain, which is a conserved structural motif found in several proteins involved in chromatin remodeling and DNA repair. The EHD domain is responsible for the protein's ability to interact with other proteins and nucleic acids, facilitating its role in cellular processes.

EHD4 has been shown to play a role in DNA repair, specifically in the non-homologous end joining (NHEJ) pathway. NHEJ is a DNA repair mechanism that joins broken ends of DNA without the need for a homologous template. EHD4 interacts with the Ku70/Ku80 heterodimer, a key component of the NHEJ pathway, and facilitates the recruitment of other factors involved in DNA repair.

In addition to its role in DNA repair, EHD4 has also been implicated in other cellular processes, such as transcription and cell cycle regulation. However, the exact mechanisms by which EHD4 regulates these processes are not yet fully understood.

Mutations in the EHD4 gene have been associated with several genetic disorders, including Fanconi anemia and Bloom syndrome. These disorders are characterized by chromosomal instability, DNA repair defects, and an increased risk of cancer. The specific role of EHD4 in these disorders is still an active area of research.