CDC45L ist ein Gen, das durch das Symbol CDC45 kodiert wird. Andere Namen sind: Cell division control protein 45 homolog; PORC-PI-1; CDC452. CDC45L hat eine Masse von 65.57kDa, eine Aminosäurelänge von 566, und ist an Meier-Gorlin syndrome 7 beteiligt.
Wir bieten 6 antikörper gegen CDC45L, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ICC/IF and IP mit Proben abgeleitet von Human, Maus, Ratte und S. pombe.
Gen- und Proteininformationen
UniProt Zusammenfassung
Required for initiation of chromosomal DNA replication.
Entrez Zusammenfassung
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. Alternate splicing results in multiple transcript variants.
Gewebespezifität
Widely expressed, highest levels are found in adult testis and thymus and in fetal liver.
Rolle bei Krankheiten
Meier-Gorlin syndrome 7: 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.
Sequenzähnlichkeiten
Belongs to the CDC45 family.
Zellort
Cytoplasm. Nucleus.
