MED13L : mediator complex subunit 13L

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Description

The MED13L (mediator complex subunit 13L) is a protein-coding gene located on chromosome 12.

The MED13L gene provides instructions for making a protein that is one piece (subunit) of a group of proteins known as the mediator complex. This complex regulates the activity (transcription) of genes. Transcription is the first step in the process by which information stored in a gene's DNA is used to build proteins. The mediator complex physically links the proteins that can turn genes on, called transcription factors, with the enzyme that carries out transcription, called RNA polymerase II. Once transcription factors are attached to RNA polymerase II, transcription begins. Researchers believe that as part of the mediator complex, the MED13L protein is involved in many aspects of early development, including development of the heart, nerve cells (neurons) in the brain, and structures in the face. The mediator complex plays a role in several chemical signaling pathways within cells. These pathways help direct a broad range of cellular activities, such as cell growth, cell movement (migration), and the process by which cells mature to carry out specific functions (differentiation).

The MED13L protein is a subunit of the Mediator complex, which plays a crucial role in regulating the transcription of almost all genes that rely on RNA polymerase II. The Mediator complex acts as a bridge, relaying information from gene-specific regulatory proteins to the basic RNA polymerase II transcription machinery. This process is initiated by the Mediator complex's direct interaction with regulatory proteins, leading to its recruitment to gene promoters. It then acts as a scaffold, facilitating the assembly of a functional preinitiation complex involving RNA polymerase II and general transcription factors. Notably, MED13L may specifically regulate the transcription of genes targeted by the Wnt and SHH signaling pathways.

MED13L is also known as MRFACD, PROSIT240, THRAP2, TRAP240L.

Associated Diseases

• Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
• Mental retardation and distinctive facial features with or without cardiac defects
• Critical congenital heart disease
• MED13L syndrome