EHD3

EHD3, also known as EHD domain-containing 3, is a protein that in humans is encoded by the EHD3 gene. This gene is located on chromosome 19q13.3. EHD3 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 EHD3 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 bind to DNA and other proteins, facilitating its role in cellular processes.

EHD3 has been shown to interact with several other proteins, including the DNA repair protein XPC and the chromatin remodeling protein CHD4. These interactions suggest that EHD3 plays a role in DNA repair and chromatin remodeling.

Mutations in the EHD3 gene have been associated with several genetic disorders, including Xeroderma Pigmentosum Group C (XPC), a rare genetic disorder characterized by extreme sensitivity to sunlight and an increased risk of skin cancer. However, the exact role of EHD3 in XPC is not yet fully understood.

In summary, EHD3 is a protein that plays a role in DNA repair and chromatin remodeling. It is encoded by the EHD3 gene and contains an EHD domain that facilitates its interactions with other proteins. Mutations in the EHD3 gene have been associated with genetic disorders, including XPC. Further research is needed to fully understand the role of EHD3 in cellular processes and its involvement in genetic disorders.