RPS27 Chromosome 1
Ribosomal protein S27
Upload your DNA to see your personal genotypes for variants in RPS27.
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 S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000177954
Associated Conditions (1)
Diamond-Blackfan anemia 17
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1085307115 | Health Risk | Pathogenic | Diamond-Blackfan anemia 17, Diamond-Blackfan anemia 17 |