CYLD CYLD lysine 63 deubiquitinase
Gene ID: 1540, updated on 28-Oct-2024Gene type: protein coding
Also known as: EAC; MFT; SBS; TEM; BRSS; CDMT; MFT1; CYLD1; CYLDI; USPL2; FTDALS8
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- Go to complete Gene record for CYLD
- Go to Variation Viewer for CYLD variants
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
| Description | Tests |
|---|---|
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Brooke-Spiegler syndrome | See labs |
| Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. GeneReviews: Not available | |
| Familial cylindromatosis | See labs |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | See labs |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. GeneReviews: Not available | |
| Trichoepithelioma, multiple familial, 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 16q12.1
- Sequence:
- Chromosome: 16; NC_000016.10 (50742086..50801935)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYLD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CYLD database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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