RPL13 Chromosome 16

Ribosomal protein L13
7 variants 7 Health Risk

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What This Gene Does
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 L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
"L ribosomal proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000167526
Associated Conditions (3)
Spondyloepimetaphyseal dysplasia
Isidor-Toutain type
RPL13-related disorder
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS1597676540 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS374646539 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, Spondyloepimetaphyseal dysplasia
RS111631219 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, Spondyloepimetaphyseal dysplasia
RS1597675888 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, Spondyloepimetaphyseal dysplasia
RS1597675890 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, Spondyloepimetaphyseal dysplasia
RS2058757423 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, Spondyloepimetaphyseal dysplasia
RS934768094 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, Spondyloepimetaphyseal dysplasia
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