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Details of MED13L gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MED13L | KIAA1025,PROSIT240,THRAP2,TRAP240L | Q71F56 | MD13L_HUMAN | 23389
| ENSG00000123066
| Mediator of RNA polymerase II transcription subunit 13-like | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. Note=The disease is caused by mutations affecting the gene represented in this entry. |
608808 |
Note=A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro- looped and mental retardation. Translocation t(1217)(q24.1q21). |
608808 |
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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