| General information | Literature | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 29090 |
Name | TIMM21 |
Synonymous | C18orf55|TIM21;translocase of inner mitochondrial membrane 21 homolog (yeast);TIMM21;translocase of inner mitochondrial membrane 21 homolog (yeast) |
Definition | TIM21-like protein, mitochondrial|mitochondrial import inner membrane translocase subunit Tim21 |
Position | 18q22.3 |
Gene type | protein-coding |
Source | Count: TIMM21; 18q22.3 |
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Sentence |
Abstract |
| "We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 � 10-10)." | pulmonary arterial hypertension (PAH) is a rare, severe disease resulting from progressive obliteration of small-caliber pulmonary arteries by proliferating vascular cells. PAH can occur without recognized etiology (idiopathic PAH), be associated with a systemic disease or occur as a heritable form, with BMPR2 mutated in approximately 80% of familial and 15% of idiopathic PAH cases. We conducted a genome-wide association study (GWAS) based on 2 independent case-control studies for idiopathic and familial PAH (without BMPR2 mutations), including a total of 625 cases and 1,525 healthy individuals. We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 x 10-10). CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs. |