RPL3L Chromosome 16
Ribosomal protein L3 like
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What This Gene Does
This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000140986
Associated Conditions (3)
Cardiomyopathy
dilated
2D
Key Variants
RS140192228
Conflicting classifications of pathogenicity
Health Risk
RS770344400
Conflicting classifications of pathogenicity
Cardiomyopathy, dilated, 2D
Health Risk
RS143544112
Pathogenic
Cardiomyopathy, dilated, 2D
Health Risk
RS1465045317
Pathogenic
Cardiomyopathy, dilated, 2D
Health Risk
RS2150861462
Pathogenic
Cardiomyopathy, dilated, 2D
Health Risk
RS376654625
Pathogenic
Cardiomyopathy, dilated, 2D
Health Risk
RS924125081
Pathogenic
Cardiomyopathy, dilated, 2D
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140192228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770344400 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, dilated, 2D |
| RS143544112 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2D |
| RS1465045317 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2D |
| RS2150861462 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2D |
| RS376654625 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2D |
| RS924125081 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2D |