TRPS1 protein is a multifunctional protein that plays a crucial role in cell proliferation, differentiation, and tissue development. It is widely expressed in various tissues of the human body, such as the prostate, testis, ovary, kidney, and breast, and is primarily located in the nucleus. Notably, TRPS1 RNA expression levels are the highest in the mammary gland and mammary tumor tissues. In deeper research, TRPS1 protein has been found to regulate the abnormal replication of DNA in heterochromatic regions marked by H3K9me3, leading to genomic instability. This molecular mechanism enhances our understanding of tumor genesis, progression, and evolution, and also provides insights into the pathogenesis of tricho-rhino-phalangeal syndrome (Type I hair-nose-finger syndrome, TRPS1). Furthermore, the TRPS1 gene is located in the human chromosome 8q24.12 region and encodes a protein that plays a vital regulatory role in embryonic development and bone formation. When the TRPS1 gene is mutated, it can lead to abnormal protein function, resulting in characteristic symptoms of Type I hair-nose-finger syndrome, including sparse hair, nasal deformities, and abnormal phalanges.
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