RPL26 Chromosome 17
Ribosomal protein L26
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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 L24P 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. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000161970
Associated Conditions (1)
Diamond-Blackfan anemia 11
Key Variants
RS2544009466
Likely pathogenic
Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
Health Risk
RS2544010895
Likely pathogenic
Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
Health Risk
RS2544009221
Pathogenic
Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
Health Risk
RS397518451
Pathogenic
Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544009466 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11 |
| RS2544010895 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11 |
| RS2544009221 | Health Risk | Pathogenic | Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11 |
| RS397518451 | Health Risk | Pathogenic | Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11 |