RPS23 Chromosome 5
Ribosomal protein S23
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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 S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. 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
5q14.2
Ensembl
ENSG00000186468
Associated Conditions (3)
Brachycephaly
trichomegaly
and developmental delay
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060505034 | Health Risk | Pathogenic | Brachycephaly, trichomegaly, and developmental delay |
| RS1060505035 | Health Risk | Pathogenic | Brachycephaly, trichomegaly, and developmental delay |