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Chromosome X open reading frame 48, pseudogene

Molecular classification
Pseudogene
01

Overview

Chromosome X open reading frame 48 pseudogene (CXorf48P, ENSG00000273988) is a human pseudogene locus on the X chromosome. Pseudogenes are genomic DNA sequences that resemble known genes but are non-functional due to disruptive mutations or loss of regulatory features necessary for gene expression[2][6]. While most pseudogenes were historically believed to be functionless, recent studies suggest some can act as regulatory RNA elements, influence gene expression, or modulate chromatin architecture; however, the majority—including this one—do not produce functional protein and are not considered meaningful therapeutic targets or disease genes[1][2][4][6]. There is no evidence that chromosome X open reading frame 48 pseudogene encodes any functional RNA or protein, nor that it is involved in cellular signaling, disease pathogenesis, or pharmacology[2][4][6].

Other names
Cxorf48PCXorf48 pseudogeneCXorf48P
02

Biological functions

Gene regulation (e.g., as regulatory RNAs or miRNA sponges)Modulating chromatin architectureRarely, as sources of small interfering RNAs
03

Disease associations

Most pseudogenes are not directly implicated in disease, but some can be involved in gene regulation affecting disease or act as disease biomarkers in rare casesFor this specific pseudogene, there is no evidence supporting a direct disease role.

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