MAB21L2

MAB21L2 or Male abnormal 21-like 2 is a protein that in humans is encoded by the MAB21L2 gene. This gene is a member of the mab-21 gene family and encodes a protein with a conserved domain of unknown function (DUF4509).

Function

The MAB21L2 protein is thought to play a crucial role in organogenesis. It is involved in the development of the eye and nervous system, and mutations in this gene have been associated with various ocular diseases, including microphthalmia and coloboma.

Structure

The MAB21L2 gene is located on the long (q) arm of chromosome 4 at position 32.2. The protein encoded by this gene contains 336 amino acids and has a predicted molecular mass of approximately 37.6 kDa.

Clinical significance

Mutations in the MAB21L2 gene have been associated with a range of ocular disorders. These include anophthalmia or severe microphthalmia, a condition where the eye is abnormally small or absent. Other conditions associated with mutations in this gene include coloboma, where there is a gap in one of the structures of the eye.

Research

Research into the MAB21L2 gene and its associated protein is ongoing, with studies focusing on its role in eye development and the mechanisms by which mutations can lead to ocular disorders.

See also

• MAB21L1
• Microphthalmia
• Coloboma
• Anophthalmia