PCLO
Description
The PCLO gene provides instructions for making a protein involved in crucial cellular processes. This protein, known as PCLO protein, plays a vital role in regulating cell division and ensuring accurate DNA replication. It acts as a scaffolding protein, helping to assemble and organize other proteins involved in these processes. PCLO protein interacts with various components of the DNA damage response machinery, assisting in the repair of damaged DNA, crucial for maintaining genomic stability. Mutations in the PCLO gene can disrupt its normal function, leading to various diseases.
Associated Diseases
- Microcephaly
- Intellectual disability
- Developmental delay
- Epilepsy
- Cerebellar ataxia
- Spinal muscular atrophy
- Cancer (some types)
Did you know?
Mutations in the PCLO gene are associated with a rare autosomal recessive disorder called microcephaly, characterized by an abnormally small head size.
