RPS24 Chromosome 10
Ribosomal protein S24
Upload your DNA to see your personal genotypes for variants in RPS24.
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 S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different 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. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000138326
Associated Conditions (4)
Diamond-Blackfan anemia
Diamond-Blackfan anemia 3
RPS24-related disorder
Abnormality of blood and blood-forming tissues
Key Variants
RS1589328276
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 3, Diamond-Blackfan anemia
Health Risk
RS201805132
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, RPS24-related disorder, Diamond-Blackfan anemia
Health Risk
RS759947869
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia, Diamond-Blackfan anemia 3
Health Risk
RS762233086
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 3, Diamond-Blackfan anemia
Health Risk
RS931570987
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
Health Risk
RS2131976201
Likely pathogenic
Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues
Health Risk
RS2131976643
Likely pathogenic
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
Health Risk
RS2493281886
Likely pathogenic
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
Health Risk
RS2493281976
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS104894188
Pathogenic
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
Health Risk
RS104894189
Pathogenic
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia, Diamond-Blackfan anemia 3
Health Risk
RS116840806
Pathogenic
Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1589328276 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 3, Diamond-Blackfan anemia |
| RS201805132 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, RPS24-related disorder, Diamond-Blackfan anemia |
| RS759947869 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia, Diamond-Blackfan anemia 3 |
| RS762233086 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 3, Diamond-Blackfan anemia |
| RS931570987 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3 |
| RS2131976201 | Health Risk | Likely pathogenic | Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues |
| RS2131976643 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3 |
| RS2493281886 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3 |
| RS2493281976 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS104894188 | Health Risk | Pathogenic | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3 |
| RS104894189 | Health Risk | Pathogenic | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia, Diamond-Blackfan anemia 3 |
| RS116840806 | Health Risk | Pathogenic | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3 |
| RS1554841994 | Health Risk | Pathogenic | Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3 |
| RS1589326484 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2493274026 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2493280473 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2493287899 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS886039545 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |