Gene Symbol | MED13L |
Entrez Gene ID | 23389 |
Full Name | mediator complex subunit 13 like |
Synonyms | MRFACD,PROSIT240,THRAP2,TRAP240L |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | Transposition of the great arteries, dextro-looped 1, 608808 (3); Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3) |