CYLD-AS1

Homo sapiens

ASSOCIATED WITH Blau syndrome; Brooke-Spiegler syndrome; Chediak-Higashi syndrome

CYLD-AS2

Homo sapiens

ASSOCIATED WITH Brooke-Spiegler syndrome; Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8; genetic disease

cyld-1

Caenorhabditis elegans

Predicted to enable K63-linked deubiquitinase activity and cysteine-type deubiquitinase activity. Predicted to be involved in protein K63-linked deubiquitination. Predicted to be located in cytosol. Expressed in several structures, including arcade cell; pharyngeal cell; pharyngeal-intestinal valve; rectal gland cell; and spermatheca. Human ortholog(s) of this gene implicated in Brooke-Spiegler syndrome. Is an ortholog of human CYLD (CYLD lysine 63 deubiquitinase).

CYLD

Homo sapiens

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]

CYLD

Rattus norvegicus

Predicted to enable several functions, including deubiquitinase activity; proline-rich region binding activity; and zinc ion binding activity. Involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane and regulation protein catabolic process at postsynapse. Is active in glutamatergic synapse and postsynaptic density. Human ortholog(s) of this gene implicated in Brooke-Spiegler syndrome. Orthologous to human CYLD (CYLD lysine 63 deubiquitinase); PARTICIPATES IN nuclear factor kappa B signaling pathway; tumor necrosis factor mediated signaling pathway; Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; acrylamide.