RPS15A Chromosome 16
Ribosomal protein S15a
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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 40S subunit. The protein belongs to the S8P 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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
16p12.3
Ensembl
ENSG00000134419
Associated Conditions (1)
Diamond-Blackfan anemia 20
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567287990 | Health Risk | Pathogenic | Diamond-Blackfan anemia 20, Diamond-Blackfan anemia 20 |