RPL10 Chromosome X
Ribosomal protein L10
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What This Gene Does
This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"L ribosomal proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000147403
Associated Conditions (8)
Inborn genetic diseases
Intellectual disability
X-linked
syndromic
35
Autism
susceptibility to
X-linked 5
Key Variants
RS138325578
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1019534975
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS1557184925
Likely pathogenic
Health Risk
RS2148140779
Likely pathogenic
Health Risk
RS1131692040
Pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS1131692041
Pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS1131692042
Pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS387906727
risk factor
Autism, susceptibility to, X-linked 5
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138325578 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1019534975 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS1557184925 | Health Risk | Likely pathogenic | — |
| RS2148140779 | Health Risk | Likely pathogenic | — |
| RS1131692040 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS1131692041 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS1131692042 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS387906727 | Health Risk | risk factor | Autism, susceptibility to, X-linked 5 |