RPS29 Chromosome 14

Ribosomal protein S29
5 variants 5 Health Risk

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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 and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000213741
Associated Conditions (1)
Diamond-Blackfan anemia 13
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS763967610 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13
RS1064795244 Health Risk Likely pathogenic
RS1474053113 Health Risk Likely pathogenic
RS587777569 Health Risk Likely pathogenic Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13
RS587777568 Health Risk Pathogenic Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13
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