SMEK1
The SMECK1 Gene: Unraveling Its Role in Health and Disease
Description
The SMECK1 gene, located on chromosome 22, encodes a protein essential for proper cellular function. This gene plays a critical role in maintaining the integrity of the cell's genome, the set of genetic information that governs an organism's development and characteristics.
SMECK1 is involved in various cellular processes, including DNA replication, DNA repair, and cell division. It is part of the SMC5-6 complex, a group of proteins that forms a ring-like structure and holds sister chromatids together during cell division. By ensuring the accurate segregation of chromosomes, SMECK1 helps prevent genetic abnormalities that can lead to disease.
Associated Diseases
Mutations in the SMECK1 gene have been linked to several genetic disorders, including:
- Cornelia de Lange syndrome: A rare condition characterized by distinctive facial features, developmental delays, and growth problems.
- Roberts syndrome: A rare and severe disorder that affects multiple systems, including the limbs, organs, and bone marrow.
- Microcephaly (small head size): A condition in which the head is significantly smaller than normal.
- Intellectual disability: A range of cognitive impairments that affect everyday functioning.
Did you Know ?
Approximately 1 in 50,000 newborns worldwide are estimated to have a mutation in the SMECK1 gene, highlighting its significant impact on human health.
