MAB21L1

MAB21L1 is a gene that encodes a member of the male abnormal 21-like (MAB-21) family of proteins. The encoded protein is involved in numerous cellular processes, including eye and neural development. Mutations in this gene have been associated with various diseases, including congenital anomalies and neurodevelopmental disorders.

Function

The MAB21L1 gene is part of the MAB-21 family, which is characterized by a unique domain structure and is highly conserved across species. The protein encoded by this gene is believed to play a crucial role in the development of the nervous system and the formation of the eye. It is expressed in various tissues, including the brain, eye, and kidney.

Clinical significance

Mutations in the MAB21L1 gene have been linked to a range of medical conditions. These include coloboma, a condition characterized by missing pieces in the structures that form the eye, and intellectual disability, a condition characterized by below-average intelligence and a lack of skills necessary for daily living.

Research

Research into the MAB21L1 gene is ongoing, with scientists seeking to better understand its function and the mechanisms by which mutations in the gene lead to disease. This research could potentially lead to new treatments for conditions associated with mutations in the MAB21L1 gene.

See also

• MAB21L2
• Congenital anomalies
• Neurodevelopmental disorders

References

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