PSMA8

Chr 18

proteasome 20S subunit alpha 8

ENSG00000154611 UniProt: Q8TAA3 OMIM: 617841

This gene encodes a component of the spermatoproteasome that degrades specific proteins during male meiosis, including histones and meiotic proteins like RAD51 and RPA1, and is essential for proper chromosome pairing during spermatogenesis. While the gene shows low constraint against loss-of-function variants (pLI ~0, LOEUF ~1), no definitive human disease associations have been established based on the provided information. Given its testis-specific expression and role in male meiosis, mutations would likely affect male fertility if pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a protein complex that degrades unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Required for 20S core proteasome assembly, essential for the degradation of meiotic proteins RAD51 and RPA1 at late prophase I and the progression of meiosis I during spermatogenesis. Localizes to the synaptonemal complex, a 'zipper'-like structure that holds homologous chromosome pairs in synapsis during meiotic prophase I

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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