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Testis specific protein, Y-linked family pseudogene

Molecular classification
Other (pseudogene)
01

Overview

ENSG00000235094 encodes a testis specific protein, Y-linked family pseudogene, which refers to a nonfunctional genomic element arising from the TSPY (Testis Specific Protein Y-linked) gene family, normally located on the human Y chromosome[1][4][6]. Pseudogenes like this result from gene duplication or retrotransposition events and typically contain disabling mutations that prevent the production of functional protein[2][4]. Although the parental gene TSPY1 is protein-coding and has been implicated in male gonadal development, spermatogenesis, and is overexpressed in some tumors such as gonadoblastoma, the pseudogene variant corresponding to ENSG00000235094 lacks coding capability and is not recognized as a therapeutic target[3][5]. Most pseudogenes do not produce significant functional RNA or protein products, but in some contexts and for some pseudogenes, regulatory roles at the RNA level have been described[2][6]. However, there is no evidence for a specific biological role or therapeutic interest regarding ENSG00000235094.

Other names
TSPY pseudogenetestis-specific protein Y-linked pseudogeneTSPY family pseudogene
02

Biological functions

Other (no established protein-coding function; may have regulatory roles as a transcribed pseudogene in general)
03

Disease associations

Other (no direct disease association; functional paralogs like TSPY1 have been linked to gonadoblastoma, but this is a nonfunctional pseudogene)

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