ORC4L (ORC4) Antibody – Goat Polyclonal

The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

ORC4L: 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. Defects in ORC4 are the cause of Meier-Gorlin syndrome type 2 (MGORS2). 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. Belongs to the ORC4 family.

Chromosomal Location of Human Ortholog: 2q22-q23

Cellular Component: actin cytoskeleton; cytoplasm; nuclear chromosome, telomeric region; nuclear origin of replication recognition complex; nucleolus; nucleoplasm; nucleus; origin recognition complex

Molecular Function: DNA replication origin binding; nucleotide binding; protein binding

Biological Process: DNA replication; DNA replication initiation; G1/S transition of mitotic cell cycle

Disease: Meier-gorlin Syndrome 2