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Salvador homolog 1 pseudogene

Molecular classification
Pseudogene
01

Overview

Salvador homolog 1 pseudogene (ENSG00000249741) is a genomic locus in the human genome annotated as a pseudogene related to the functional Salvador homolog 1 (WW45, SAV1) gene. Pseudogenes are nonfunctional segments of DNA that resemble protein-coding genes but have accumulated disabling mutations, preventing them from producing functional proteins. Most pseudogenes, including this locus, do not act as receptors, enzymes, or other molecular targets, and are not directly involved in diseases or cellular processes, though in some cases pseudogenes can produce regulatory RNAs[3][1][2]. This specific pseudogene does not have a well-documented biological function or role in disease and does not interact with known drugs or serve as a biomarker[3][1]. Pseudogenes can occasionally be transcribed and may have regulatory effects, but the majority—including this one—have no clinical or therapeutic relevance[3][1][2]. Many databases annotate thousands of pseudogenes, but these are not considered molecular targets for therapy or research unless shown to have specific functions; this locus is not one of those exceptions[5]. If you need details about the functional Salvador homolog 1 (SAV1/WW45) protein, which is involved in the Hippo signaling pathway and tumor suppression, please clarify, as ENSG00000249741 refers exclusively to the pseudogene and not a functional protein.

02

Biological functions

Other
03

Disease associations

Other

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