60S ribosomal protein L21 is a
protein that in humans is encoded by the RPL21gene.[5][6][7]
Ribosomes, the
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 a
ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the
cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed
pseudogenes of this gene dispersed through the genome.[7]
Clinical relevance
Mutations in the RPL21 gene result in
Hypotrichosis simplex of the scalp.[8]
Albertsen HM, Smith SA, Mazoyer S, et al. (1994). "A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21". Nat. Genet. 7 (4): 472–9.
doi:
10.1038/ng0894-472.
PMID7951316.
S2CID11075629.
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.
Odintsova TI, Müller EC, Ivanov AV, et al. (2004). "Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing". J. Protein Chem. 22 (3): 249–58.
doi:
10.1023/A:1025068419698.
PMID12962325.
S2CID10710245.
60S ribosomal protein L21 is a
protein that in humans is encoded by the RPL21gene.[5][6][7]
Ribosomes, the
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 a
ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the
cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed
pseudogenes of this gene dispersed through the genome.[7]
Clinical relevance
Mutations in the RPL21 gene result in
Hypotrichosis simplex of the scalp.[8]
Albertsen HM, Smith SA, Mazoyer S, et al. (1994). "A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21". Nat. Genet. 7 (4): 472–9.
doi:
10.1038/ng0894-472.
PMID7951316.
S2CID11075629.
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.
Odintsova TI, Müller EC, Ivanov AV, et al. (2004). "Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing". J. Protein Chem. 22 (3): 249–58.
doi:
10.1023/A:1025068419698.
PMID12962325.
S2CID10710245.