Entrez gene ID | | 7353 |
Official gene symbol | | UFD1L |
Full name | | ubiquitin fusion degradation 1 like (yeast) |
Aliases | | ,UFD1, |
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. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q11.21 |
Gene position | | 19466738 - 19437464 Map Viewer |
Gene orientation | | minus |
Gene size | | 29275 bp |
Gene sequence |
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OMIM ID | | 601754 |