GTR Home > Genes

CYLD CYLD lysine 63 deubiquitinase

Also known as: EAC; MFT; SBS; TEM; BRSS; CDMT; MFT1; CYLD1; CYLDI; USPL2

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Cylindromatosis, familial
MedGen: C1851526OMIM: 132700GeneReviews: Not available
See labs
Familial multiple trichoepitheliomata
MedGen: C1275122OMIM: 601606GeneReviews: Not available
See labs
Spiegler-Brooke syndrome
MedGen: C1857941OMIM: 605041GeneReviews: Not available
See labs

Genomic context

Location:
16q12.1
Sequence:
Chromosome: 16; NC_000016.10 (50742026..50801935)
Total number of exons:
22

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center