Gene Symbol | CYLD |
Entrez Gene ID | 1540 |
Full Name | CYLD lysine 63 deubiquitinase |
Synonyms | BRSS,CDMT,CYLD1,CYLDI,EAC,MFT,MFT1,SBS,TEM,USPL2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cylindromatosis, familial, 132700 (3); Brooke-Spiegler syndrome, 605041 (3); Trichoepithelioma, multiple familial, 1, 601606 (3) |