SMC1A : structural maintenance of chromosomes 1A

Description

The SMC1A (structural maintenance of chromosomes 1A) is a protein-coding gene located on chromosome X.

The SMC1A gene provides instructions for making a protein that is part of the structural maintenance of chromosomes (SMC) family. Within the nucleus, SMC proteins help regulate the structure and organization of chromosomes. The protein produced from the SMC1A gene helps control 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 to one another during the early stages of cell division. The SMC1A protein is part of a protein group called the cohesin complex that holds the sister chromatids together. Researchers believe that the SMC1A protein, as a structural component of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and regulating the activity of certain genes that are essential for normal development.

The SMC1A gene produces a protein that is essential for proper chromosome behavior during cell division. It helps keep sister chromatids, identical copies of DNA, attached to each other until the cell is ready to divide. This process is crucial for ensuring that each daughter cell receives a complete set of chromosomes. Furthermore, the protein plays a role in DNA repair by interacting with BRCA1 and responding to DNA damage signals through phosphorylation by ATM and ATR. These actions contribute to the cell's ability to repair damaged DNA and maintain genomic integrity.

SMC1A is also known as CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing