Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Meier-Gorlin syndrome At least one mutation in the CDC6 gene causes Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. This mutation, which is a rare cause of the condition, changes a single protein building block (amino acid) in the CDC6 protein, replacing the amino acid threonine at position 323 with the amino acid arginine (written as Thr323Arg). As a result, assembly of the pre-replication complex is impaired, which disrupts replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which slows growth of the bones and other tissues during development. It is not known why development of the kneecaps and ears is particularly affected in Meier-Gorlin syndrome.

     The CDC6 gene provides instructions for making a protein that is important in the copying of a cell's DNA before the cell divides (a process known as DNA replication). The protein produced from this gene, called cell division cycle 6 or CDC6, is one of a group of proteins known as the pre-replication complex. In a multi-step process, the components of this complex attach (bind) to certain regions of DNA known as origins of replication (or origins), where the process of DNA copying begins. When the pre-replication complex is attached to the origin, replication is able to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• p53
• E2F-1
• YY1

Molecular Function:

• Nucleotide Binding
• Atp Binding
• Kinase Binding

Biological Processes:

• Dna Replication Checkpoint
• Regulation Of Cyclin-Dependent Protein Serine/Threonine Kinase Activity
• G1/S Transition Of Mitotic Cell Cycle
• Regulation Of Transcription Involved In G1/S Transition Of Mitotic Cell Cycle
• Dna Replication
• Dna Replication Initiation
• Mitotic Nuclear Division
• Traversing Start Control Point Of Mitotic Cell Cycle
• Negative Regulation Of Dna Replication
• Negative Regulation Of Cell Proliferation
• Regulation Of Mitotic Metaphase/Anaphase Transition
• Positive Regulation Of Cytokinesis
• Positive Regulation Of Cyclin-Dependent Protein Serine/Threonine Kinase Activity
• Positive Regulation Of Fibroblast Proliferation
• Cell Division
• Positive Regulation Of Chromosome Segregation
• Cellular Response To Vasopressin
• Cellular Response To Angiotensin

*synonyms