MED12
Encyclopedia
Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene
found on the X chromosome
. Mutations in MED12 are responsible for at least two different forms of X-linked dominant
mental retardation
, Lujan-Fryns syndrome
and FG syndrome
.
with SOX9
, PPARGC1A
, Thyroid hormone receptor alpha
, Estrogen receptor alpha
, MED26
, Cyclin-dependent kinase 8
and Calcitriol receptor
.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
found on the X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
. Mutations in MED12 are responsible for at least two different forms of X-linked dominant
X-linked dominant
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 than the X-linked recessive type...
mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
, Lujan-Fryns syndrome
Lujan-Fryns syndrome
Lujan–Fryns syndrome , also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, is an X-linked genetic disorder that causes mild to moderate mental retardation and features described as Marfanoid habitus, referring to a group of physical characteristics similar to...
and FG syndrome
FG syndrome
FG syndrome is a rare genetic syndrome linked to the X chromosome and causing physical anomalies and developmental delays...
.
Interactions
MED12 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with SOX9
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 proteins...
, PPARGC1A
PPARGC1A
Peroxisome proliferator-activated receptor gamma coactivator 1-alpha is a protein that in humans is encoded by the PPARGC1A gene....
, Thyroid hormone receptor alpha
Thyroid hormone receptor alpha
Thyroid hormone receptor alpha also known as nuclear receptor subfamily 1, group A, member 1 , is a nuclear receptor protein that in humans is encoded by the THRA gene.- Function :...
, Estrogen receptor alpha
Estrogen receptor alpha
Estrogen receptor alpha , also known as NR3A1 , is a nuclear receptor that is activated by the sex hormone estrogen...
, MED26
MED26
Mediator of RNA polymerase II transcription subunit 26 is an enzyme that in humans is encoded by the MED26 gene.-Interactions:MED26 has been shown to interact with MED8, Cyclin-dependent kinase 8, POLR2A, MED12 and MED28.-Further reading:...
, Cyclin-dependent kinase 8
Cyclin-dependent kinase 8
Cell division protein kinase 8 is an enzyme that in humans is encoded by the CDK8 gene.-Interactions:Cyclin-dependent kinase 8 has been shown to interact with MED16, MED26, MED17, MED14, CREB binding protein, MED1, MED6, MED24, CCNC, POLR2A, MED21, SMARCB1, MED12 and CRSP3....
and Calcitriol receptor
Calcitriol receptor
The calcitriol receptor, also known as the vitamin D receptor and also known as NR1I1 , is a member of the nuclear receptor family of transcription factors...
.