WDR5 (WD repeat domain 5) is a protein that in humans is encoded by the WDR5 gene. It is a component of the COMPASS complex, which is involved in histone methylation and transcriptional regulation.
WDR5 mutations have been linked to a variety of developmental disorders, including Kabuki syndrome, Nicolaides-Baraitser syndrome, and anophthalmia-microphthalmia spectrum disorders.
Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and growth retardation. Nicolaides-Baraitser syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features. Anophthalmia-microphthalmia spectrum disorders are a group of rare genetic disorders characterized by the absence or underdevelopment of one or both eyes.
There is currently no cure for Kabuki syndrome, Nicolaides-Baraitser syndrome, or anophthalmia-microphthalmia spectrum disorders. Treatment is supportive and may include speech therapy, physical therapy, and occupational therapy.
Research on WDR5 is ongoing, and there is hope that a better understanding of this protein will lead to new treatments for these disorders.
Here are some additional details about WDR5 and its role in human health:
- WDR5 is a large protein (over 2,000 amino acids) that is located on chromosome 11p15.5.
- WDR5 is expressed in a variety of tissues, including the brain, heart, liver, and kidneys.
- WDR5 is a component of the COMPASS complex, which is a multi-protein complex that is involved in histone methylation.
- Histone methylation is a chemical modification that can alter the structure of DNA, and it is involved in regulating gene expression.
- Mutations in WDR5 can lead to a variety of developmental disorders, including Kabuki syndrome, Nicolaides-Baraitser syndrome, and anophthalmia-microphthalmia spectrum disorders.
- The exact mechanism by which WDR5 mutations cause these disorders is not yet fully understood. However, it is thought that these mutations may disrupt the function of the COMPASS complex, which could lead to changes in gene expression and developmental problems.
- There is currently no cure for Kabuki syndrome, Nicolaides-Baraitser syndrome, or anophthalmia-microphthalmia spectrum disorders. Treatment is supportive and may include speech therapy, physical therapy, and occupational therapy.
- Research on WDR5 is ongoing, and there is hope that a better understanding of this protein will lead to new treatments for these disorders.
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