CDC6
Function
Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
Involvement in disease
Meier-Gorlin syndrome 5
MGORS5
A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by the SCF(CCNF) E3 ubiquitin-protein ligase complex.
Sequence Similarities
Belongs to the CDC6/cdc18 family.
Cellular localization
- Nucleus
- Cytoplasm
- The protein is nuclear in G1 and cytoplasmic in S-phase cells (PubMed:9566895).
Alternative names
CDC18L, CDC6, Cell division control protein 6 homolog, CDC6-related protein, Cdc18-related protein, p62(cdc6), HsCdc18, HsCDC6