KHDRBS1

KHDRBS1 (KH Domain Containing, RNA Binding, Signal Transduction Associated 1) is a protein that in humans is encoded by the KHDRBS1 gene. This protein is also commonly known as Sam68, from the 68 kDa Src-associated protein in mitosis.

Function

The KHDRBS1 protein is a member of the Signal Transduction-associated protein family. It plays a crucial role in several cellular processes, including RNA metabolism, signal transduction, and alternative splicing. The protein contains a KH domain, which is a type of RNA-binding domain. This allows the protein to bind to RNA and influence its processing.

Clinical significance

Mutations in the KHDRBS1 gene have been associated with various medical conditions. For instance, it has been linked to neurodevelopmental disorders and certain types of cancer. In cancer, the protein is often overexpressed, leading to abnormal cell growth and proliferation.

Research

Research into KHDRBS1 is ongoing, with scientists seeking to understand its exact role in the body and how it contributes to disease. This could potentially lead to new treatments for conditions associated with the gene.

See also

• KH domain
• RNA-binding protein
• Signal transduction

References

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