Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
Show all species
Show all synonyms
Select your species
Heterozygous MED13L variants cause transposition of the great arterie.
Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype
A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D (show CACNA1D ELISA Kits), CYP21A2 (show CYP21A2 ELISA Kits), and MED13L) and a newly discovered variant near SLC4A7 (show SLC4A7 ELISA Kits).
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome.
We show that the Mediator complex subunit MED13L is required for Rb/E2F (show E2F1 ELISA Kits) control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition.
PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240 (show MED13 ELISA Kits), suggesting it to be a new component of the thyroid hormone receptor (show THRA ELISA Kits)-associated protein (show BCAP31 ELISA Kits) (TRAP) complex. PROSIT240 is involved in early heart and brain development.
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).
mediator of RNA polymerase II transcription subunit 13-like
, thyroid hormone receptor-associated protein 2
, thyroid hormone receptor-associated protein complex 240 kDa component-like
, thyroid hormone receptor associated protein 2
, thyroid hormone receptor-associated 240-like protein