SMC1A

The SMC1A gene provides instructions for making a protein that is part of a family called the structural maintenance of chromosomes (SMC) family. Within the nucleus, these proteins help regulate the structure and organization of chromosomes.

The protein produced from the SMC1A gene helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached together during the early stages of cell division. The SMC1A protein is part of a protein group (called the cohesion complex) that holds the sister chromatids together until the cell splits into two.

Researchers believe that the SCM1A protein also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.

Cornelia de Lange syndrome - caused by mutations in the SMC1A gene

At least ten mutations in the SCM1A gene have been identified in people with a relatively mild form of Cornelia de Lange syndrome. Most of these mutations change single protein building blocks (amino acids) used to make the SCM1A protein. These genetic changes alter the structure and function of the protein, disrupting its ability to regulate genes involved in normal development. These changes in gene regulation are likely responsible for the developmental problems found in Cornelia de Lange syndrome.