PTCD3 Chromosome 2
Pentatricopeptide repeat domain 3
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What This Gene Does
Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrial matrix; and nucleoplasm. Implicated in combined oxidative phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Pentatricopeptide repeat containing|Small nucleolar RNA protein coding host genes|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000132300
Associated Conditions (4)
Inborn genetic diseases
See cases
Combined oxidative phosphorylation deficiency 51
PTCD3-related disorder
Key Variants
RS143556907
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144366369
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1674335308
Likely pathogenic
See cases, Combined oxidative phosphorylation deficiency 51, See cases
Health Risk
RS2466586448
Likely pathogenic
Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
Health Risk
RS746897836
Likely pathogenic
Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
Health Risk
RS776660221
Likely pathogenic
PTCD3-related disorder, PTCD3-related disorder
Health Risk
RS1301547272
Pathogenic
Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
Health Risk
RS1573859565
Pathogenic
Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
Health Risk
RS2466560501
Pathogenic
Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
Health Risk
RS373659799
Pathogenic
Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143556907 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144366369 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1674335308 | Health Risk | Likely pathogenic | See cases, Combined oxidative phosphorylation deficiency 51, See cases |
| RS2466586448 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51 |
| RS746897836 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51 |
| RS776660221 | Health Risk | Likely pathogenic | PTCD3-related disorder, PTCD3-related disorder |
| RS1301547272 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51 |
| RS1573859565 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51 |
| RS2466560501 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51 |
| RS373659799 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51 |