MAB21L2
Description
The MAB21L2 gene, located on chromosome 19, encodes a protein crucial for embryonic development. This protein acts as a transcription factor, regulating the expression of other genes involved in various cellular processes. MAB21L2 plays a significant role in the formation of the nervous system, heart, and limbs. Mutations in this gene can lead to a range of developmental disorders, impacting various aspects of an individual‘s health and well-being.
Associated Diseases
- Microcephaly
- Intellectual Disability
- Congenital Heart Defects
- Craniofacial Abnormalities
- Limb Malformations
Did you know?
The MAB21L2 gene is highly conserved across different species, suggesting its essential role in development.
