MED27 Chromosome 9
Mediator complex subunit 27
Upload your DNA to see your personal genotypes for variants in MED27.
What This Gene Does
The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000160563
Associated Conditions (5)
Inborn genetic diseases
Neurodevelopmental disorder with spasticity
cataracts
and cerebellar hypoplasia
Severe myoclonic epilepsy in infancy
Key Variants
RS772302001
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with spasticity, cataracts
Health Risk
RS774276967
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
Health Risk
RS1024055178
Pathogenic
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
Health Risk
RS1838678412
Pathogenic
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
Health Risk
RS2131076903
Pathogenic
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772302001 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with spasticity, cataracts |
| RS774276967 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia |
| RS1024055178 | Health Risk | Pathogenic | Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia |
| RS1838678412 | Health Risk | Pathogenic | Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia |
| RS2131076903 | Health Risk | Pathogenic | Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia |