C6orf141: A Potential Drug Target and Biomarker for Chromosome 6 Open Reading Frame 141

Target Name: C6orf141

NCBI ID: G135398

C6orf141

Other Name(s): chromosome 6 open reading frame 141 | MGC46457 | CF141_HUMAN | Uncharacterized protein C6orf141 | Chromosome 6 open reading frame 141

C6orf141: A Potential Drug Target and Biomarker for Chromosome 6 Open Reading Frame 141

Chromosome 6 (C6) is one of the human chromosomes that are prone to genetic mutations, including copy number changes, gene fusions, and deletions. These mutations can lead to the development of various diseases, including Down syndrome, Fragile X syndrome, and many others. Open Reading Frame (ORF) 141, located on chromosome 6, has been identified as a gene that is frequently mutated in individuals with genetic disorders. The aim of this article is to discuss the potential drug target and biomarker C6orf141, its genetic mutation, and its clinical implications.

C6orf141 and its genetic mutation

C6orf141 is a gene located on chromosome 6, specifically ORF 141. It encodes a protein known as X-linked RNA binding protein (XRBP1), which plays a crucial role in the regulation of gene expression and RNA homeostasis. XRBP1 is expressed in various tissues and cells of the body and has been implicated in various biological processes, including cell growth, apoptosis, and fertility.

The genetic mutation associated with C6orf141 is a double mutation, which results in the substitution of the amino acid Asp for Asn at position 218. This mutation has been identified in individuals with various genetic disorders, including the Down syndrome, Fragile X syndrome, and others. The frequency of this mutation varies depending on the population under study, but it is generally found in individuals with a lower average genetic diversity.

Clinical implications of C6orf141 mutations

The genetic mutation associated with C6orf141 has been linked to a range of clinical symptoms and conditions, including developmental delays, intellectual disabilities, and various reproductive disorders. For example, individuals with the Down syndrome often have characteristic facial features and developmental delays, while those with Fragile X syndrome may experience motor and cognitive impairments. The double mutation in C6orf141 has also been linked to the development of various reproductive disorders, including infertility, ovarian hyperstimulation syndrome, and endometriosis.

In addition to its association with reproductive disorders, the genetic mutation in C6orf141 has also been linked to other clinical conditions, including cardiovascular disease, neurodegenerative diseases, and various types of cancer. For example, studies have suggested that individuals with the Fragile X syndrome may have an increased risk of developing cardiovascular disease, while individuals with the Down syndrome have been diagnosed with various types of cancer.

Potential drug targets and biomarkers

The genetic mutation associated with C6orf141 has been identified as a potential drug target, as several studies have shown that the Fragile X syndrome and other genetic disorders are associated with increased levels of XRBP1. Additionally, the double mutation has been linked to decreased levels of XRBP1 in individuals with the Down syndrome, which may contribute to the development of certain aspects of the syndrome.

In addition to its potential as a drug target, the genetic mutation in C6orf141 has also been identified as a potential biomarker for various diseases, including Fragile X syndrome, Down syndrome, and other genetic disorders. The downregulation of XRBP1 in individuals with these conditions has been shown to be associated with the development of various biological processes, including reproductive dysfunction, cognitive impairment, and cancer.

Conclusion

C6orf141 is a gene located on chromosome 6 that has been identified as a potential drug target and biomarker for various genetic disorders. The genetic mutation associated with this gene has been linked to a range of clinical symptoms and conditions, including developmental delays, intellectual disabilities, reproductive disorders, and various types of cancer. Further research is needed to fully understand the implications of this genetic mutation and its potential as a drug target and biomarker.

Protein Name: Chromosome 6 Open Reading Frame 141

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