Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Origin recognition complex, subunit 4, S. cerevisiae, homolog of
Origin recognition complex subunit 4
Origin recognition complex subunit 4 (yeast homolog) like
Origin recognition complex subunit 4 like
Origin recognition complex subunit 4 like (yeast)
origin recognition complex, subunit 4 homolog
Origin recognition complex, subunit 4, S. cerevisiae, homolog-like
Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication.
Involvement in disease
Defects in ORC4 are the cause of Meier-Gorlin syndrome type 2 (MGORS2) [MIM:613800]. MGORS2 is 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.