CYLD (gene)

From Wikipedia, the free encyclopedia
  (Redirected from Cylindromatosis)
Jump to: navigation, search
Cylindromatosis (turban tumor syndrome)
Protein CYLD PDB 1ixd.png
PDB rendering based on 1ixd.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CYLD ; BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
External IDs OMIM605018 MGI1921506 HomoloGene9069 GeneCards: CYLD Gene
EC number 3.4.19.12
RNA expression pattern
PBB GE CYLD 214272 at tn.png
PBB GE CYLD 221903 s at tn.png
PBB GE CYLD 221905 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1540 74256
Ensembl ENSG00000083799 ENSMUSG00000036712
UniProt Q9NQC7 Q80TQ2
RefSeq (mRNA) NM_001042355 NM_001128169
RefSeq (protein) NP_001035814 NP_001121641
Location (UCSC) Chr 16:
50.78 – 50.84 Mb
Chr 8:
88.7 – 88.75 Mb
PubMed search [1] [2]

Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene.[1]

This gene 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.[1]

References[edit]

Further reading[edit]