Gene: UFD1

Alternate names for this Gene: UFD1L

Gene Summary: The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: ubiquitin recognition factor in ER associated degradation 1

Type of Gene: protein-coding

Gene: CDC45

Alternate names for this Gene: CDC45L|CDC45L2|MGORS7|PORC-PI-1

Gene Summary: 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: cell division cycle 45

Type of Gene: protein-coding