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. [provided by RefSeq, Jun 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| UFD1-20-RE | 20 (40 μL) | 200 μL |  |
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| UFD1-20-OR | 20 (40 μL) | 200 μL |  |
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| UFD1-20-GO | 20 (40 μL) | 200 μL |  |
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| UFD1-20-GR | 20 (40 μL) | 200 μL |  |
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| UFD1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jun 2009]
Gene Symbol : UFD1
Gene Name : Ubiquitin recognition factor in ER associated degradation 1
Chromosome : CHR 22: 194,792,14-194,499,40
Locus : 22q11.21
Alt. Genes : LRPPRC
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