SKOR1
SKOR1 Gene
Description
The skor1 gene, also known as S-phase kinase-associated protein 1, is located on chromosome 20q11.23 and encodes a protein involved in DNA replication and repair. Skor1 interacts with and regulates Skp2, a component of the Skp1-Cullin1-F-box (SCF) ubiquitin ligase complex, which plays a crucial role in cell cycle progression and the maintenance of genome integrity.
Associated Diseases
Mutations in the skor1 gene have been associated with various diseases, including:
- Seckel Syndrome: A rare genetic disorder characterized by intrauterine growth retardation, microcephaly, and intellectual disability.
- Microcephaly (Primary): An uncommon condition in which the head size is significantly smaller than normal.
- Other Developmental Delays: Skor1 mutations have been linked to developmental delays in speech, motor skills, and cognitive abilities.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by Seckel Syndrome, highlighting the rarity of this condition caused by skor1 mutations.
