WDR8

WDR8

WDR8 is a protein that is encoded by the WDR8 gene in humans. It is also known as WD repeat-containing protein 8. WDR8 is a member of the WD repeat protein family, which is characterized by the presence of multiple copies of a conserved protein motif called the WD repeat.

Structure

The WDR8 protein consists of 7 WD repeats, which are approximately 40 amino acids long and form a beta-propeller structure. Each WD repeat contains a conserved Gly-His dipeptide at its N-terminus and a Trp-Asp dipeptide at its C-terminus. These dipeptides are important for the stability and folding of the WD repeat domain.

Function

WDR8 is involved in various cellular processes, including gene expression regulation, protein-protein interactions, and signal transduction. It has been shown to interact with several proteins, such as the RNA polymerase II subunit RPB1 and the transcription factor TFIIB, suggesting its role in transcriptional regulation.

Furthermore, WDR8 has been implicated in the assembly and function of the spliceosome, a complex involved in the removal of introns from pre-mRNA. It interacts with other spliceosomal proteins, such as PRPF8 and PRPF31, and is required for the proper splicing of specific pre-mRNA transcripts.

Clinical Significance

Mutations in the WDR8 gene have been associated with various diseases. For example, mutations in WDR8 have been found in patients with autosomal recessive non-syndromic hearing loss, a condition characterized by the loss of hearing without any other associated abnormalities.

Additionally, WDR8 has been linked to cancer development and progression. It has been shown to be overexpressed in certain types of cancer, including breast cancer and hepatocellular carcinoma. The exact mechanisms by which WDR8 contributes to cancer are still under investigation, but it is believed to play a role in cell proliferation, apoptosis, and metastasis.

See Also

• Gene expression regulation
• Protein-protein interactions
• Signal transduction
• Spliceosome
• Autosomal recessive non-syndromic hearing loss
• Cancer development and progression
• Breast cancer
• Hepatocellular carcinoma