CDC45L

The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Multiple polyadenlyation sites of this gene are reported. [provided by RefSeq]

Full Name

CDC45 cell division cycle 45-like (S. cerevisiae)

Function

Required for initiation of chromosomal DNA replication.

Biological Process

DNA replication Source: Reactome
DNA replication checkpoint Source: ProtInc
DNA replication initiation Source: GO_Central
Double-strand break repair via break-induced replication Source: GO_Central
Mitotic DNA replication preinitiation complex assembly Source: GO_Central
Regulation of chromatin silencing at telomere Source: GO_Central
Regulation of transcription involved in G1/S transition of mitotic cell cycle Source: Reactome

Cellular Location

Cytoplasm; Nucleus

Involvement in disease

Meier-Gorlin syndrome 7 (MGORS7): A form of Meier-Gorlin syndrome, 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. MGORS7 inheritance is autosomal recessive.