CYLD Chromosome 16
CYLD lysine 63 deubiquitinase
Upload your DNA to see your personal genotypes for variants in CYLD.
What This Gene Does
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]
Gene Info
Gene Group
"Ubiquitin specific peptidases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000083799
Associated Conditions (12)
Familial cylindromatosis
Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Inborn genetic diseases
Multiple myeloma
CYLD-related disorder
Trichoepithelioma
multiple familial
1
Multiple monogenic benign skin tumours
SLC35A2-congenital disorder of glycosylation
Key Variants
RS138976689
Conflicting classifications of pathogenicity
Familial cylindromatosis, Brooke-Spiegler syndrome, Familial multiple trichoepitheliomata
Health Risk
RS190787930
Conflicting classifications of pathogenicity
Familial cylindromatosis, Brooke-Spiegler syndrome, Familial multiple trichoepitheliomata
Health Risk
RS1971438573
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Health Risk
RS200905032
Conflicting classifications of pathogenicity
Familial cylindromatosis, Familial multiple trichoepitheliomata, Brooke-Spiegler syndrome
Health Risk
RS555603514
Conflicting classifications of pathogenicity
Familial multiple trichoepitheliomata, Familial cylindromatosis, Brooke-Spiegler syndrome
Health Risk
RS764097337
Conflicting classifications of pathogenicity
Brooke-Spiegler syndrome, Familial multiple trichoepitheliomata, Familial cylindromatosis
Health Risk
RS779374474
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1597073318
Likely pathogenic
Multiple myeloma, Multiple myeloma
Health Risk
RS1971543762
Likely pathogenic
CYLD-related disorder, CYLD-related disorder
Health Risk
RS2150897607
Likely pathogenic
Health Risk
RS2150996143
Likely pathogenic
Health Risk
RS2506862962
Likely pathogenic
Brooke-Spiegler syndrome, Brooke-Spiegler syndrome
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908390 | Health Risk | Pathogenic/Likely pathogenic | Brooke-Spiegler syndrome, Familial cylindromatosis, Familial multiple trichoepitheliomata |
| RS2506514993 | Health Risk | Pathogenic/Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 |