Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene, RPS4Y2 and the ribosomal protein S4, X-linked (RPS4X). The 3 isoforms encoded by these genes are not identical, but appear to be functionally equivalent.[7] Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial.[4]
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Weller PA, Critcher R, Goodfellow PN, et al. (1995). "The human Y chromosome homologue of XG: transcription of a naturally truncated gene". Hum. Mol. Genet. 4 (5): 859–68. doi:10.1093/hmg/4.5.859. PMID7633446.
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Watanabe M, Zinn AR, Page DC, Nishimoto T (1993). "Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome". Nat. Genet. 4 (3): 268–71. doi:10.1038/ng0793-268. PMID8358435. S2CID11495083.
Omoe K, Endo A (1996). "Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs". Genomics. 31 (1): 44–50. doi:10.1006/geno.1996.0007. PMID8808278.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Uechi T, Tanaka T, Kenmochi N (2001). "A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders". Genomics. 72 (3): 223–30. doi:10.1006/geno.2000.6470. PMID11401437.