40S ribosomal protein S4, X isoform is a protein that in humans is encoded by the RPS4Xgene.[5][6][7]
Ribosomes, organelles that catalyzeprotein 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 and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.[7]
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^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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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): 268–271. doi:10.1038/ng0793-268. PMID8358435. S2CID11495083.
Geerkens C, Just W, Held KR, Vogel W (1996). "Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X". Hum. Genet. 97 (1): 39–44. doi:10.1007/bf00218830. PMID8557258. S2CID9987276.
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.
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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): 223–230. doi:10.1006/geno.2000.6470. PMID11401437.