RPL18 Chromosome 19

Ribosomal protein L18
1 variant 1 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 member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000063177
Associated Conditions (1)
Diamond-Blackfan anemia 18
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1568425218 Health Risk Pathogenic Diamond-Blackfan anemia 18, Diamond-Blackfan anemia 18
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