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CYLD - Humpath.com - Human pathology

Home > A. Molecular pathology > CYLD

CYLD

HGNC:2584

Friday 3 March 2017

WKP

Definition: CYLD, is a human gene encoding a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme.

Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Mutations in this gene have been associated with cylindromatosis , multiple familial trichoepithelioma , and Brooke-Spiegler syndrome.

See also

- cylindroma
- turban tumor