Gene: CDT1

Alternate names for this Gene: DUP|RIS2

Gene Summary: The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: chromatin licensing and DNA replication factor 1

Type of Gene: protein-coding

rs387906917 in CDT1 gene and EAR, PATELLA, SHORT STATURE SYNDROME PMID 22333897 2012 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

PMID 23023959 2012 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

PMID 21358632 2011 Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

rs200652608 in CDT1 gene and MEIER-GORLIN SYNDROME 4 PMID 21358632 2011 Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

PMID 21358631 2011 Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.