Gene: LOC105371251

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CYLD

Alternate names for this Gene: BRSS|CDMT|CYLD1|CYLDI|EAC|MFT|MFT1|SBS|TEM|USPL2

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q12.1

Description of this Gene: CYLD lysine 63 deubiquitinase

Type of Gene: protein-coding

rs2302759 in LOC105371251;CYLD gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2302759 in LOC105371251;CYLD gene and Crohn Disease PMID 17804789 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.