SEPW1
SEP1 Gene: The Gatekeeper of DNA Repair and Its Role in Health and Disease
Description
The SEP1 gene, located on chromosome 8p23.1, plays a pivotal role in maintaining the integrity of our genetic material, DNA. It encodes a protein known as Septation Protein 1 (Sep1), which is involved in several cellular processes, most notably DNA repair.
Sep1 is a key component of the cohesin complex, a molecular machine responsible for holding sister chromatids together after DNA replication. It acts as a clamp, ensuring the accurate segregation of chromosomes during cell division.
Associated Diseases
Dysfunction of the SEP1 gene can lead to a range of genetic disorders, including:
- Seckel Syndrome: A rare genetic disorder characterized by dwarfism, microcephaly (small head), and intellectual disability.
- Microcephaly, Primary, Autosomal Recessive 2: Another genetic disorder causing microcephaly with additional features such as congenital cataracts and developmental delays.
- Roberts Syndrome: A rare, severe chromosomal disorder characterized by craniofacial abnormalities, limb defects, and pre- and postnatal growth retardation.
Did you Know ?
Approximately 1 in every 50,000 newborns is affected by Seckel Syndrome, highlighting the prevalence of SEP1 gene mutations.
