RPL27 Chromosome 17
Ribosomal protein L27
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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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000131469
Associated Conditions (1)
Diamond-Blackfan anemia 16
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1085307119 | Health Risk | Pathogenic | Diamond-Blackfan anemia 16, Diamond-Blackfan anemia 16 |