Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
found on the
X chromosome
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its u ...
.
Clinical significance
Mutations in ''MED12'' are responsible for at least two different forms of
X-linked dominant ''Main Article:'' Sex linkage
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common tha ...
mental retardation
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...
,
Lujan-Fryns syndrome and
FG syndrome
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first pat ...
, as well as instances of prostate cancer.
Mutations in ''MED12'' are associated with uterine
leiomyomas and breast fibroepithelial tumors (e.g.
fibroadenoma and
phyllodes tumor
Phyllodes tumors (from Greek language, Greek: ), are a rare type of Biphasic tumor, biphasic Fibroepithelial neoplasm, fibroepithelial mass that form from the periductal stromal and epithelial cells of the breast. They account for less than 1% of ...
s).
Interactions
MED12 has been shown to
interact with:
*
Calcitriol receptor,
[
* ]Cyclin-dependent kinase 8
Cell division protein kinase 8 is an enzyme that in humans is encoded by the ''CDK8'' gene.
Function
The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK8 and cyclin C associate with the Mediato ...
[
* ]Estrogen receptor alpha
Estrogen receptor alpha (ERĪ±), also known as NR3A1 (nuclear receptor subfamily 3, group A, member 1), is one of two main types of estrogen receptor, a nuclear receptor (mainly found as a chromatin-binding protein)
that is activated by the sex ...
,SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the ''SOX9'' gene.
Function
SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding domain, DNA-binding proteins. It is expressed by ...
,Thyroid hormone receptor alpha
Thyroid hormone receptor alpha (TR-alpha) also known as nuclear receptor subfamily 1, group A, member 1 (NR1A1), is a nuclear receptor protein that in humans is encoded by the ''THRA'' gene.
Function
The protein encoded by this gene is a nucle ...
.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders