CYLD wt Allele

Preferred Label : CYLD wt Allele;

NCIt synonyms : CDMT; KIAA0849; CYLD1; FLJ20180; TEM; HSPC057; USPL2; EAC; CYLDI; MFT; FLJ31664; SBS; MFT1; FLJ78684; Ubiquitin Specific Peptidase Like 2 Gene; BRSS; Cylindromatosis (Turban Tumor Syndrome) Gene; CYLD Lysine 63 Deubiquitinase wt Allele; FTDALS8;

NCIt definition : Human CYLD wild-type allele is located in the vicinity of 16q12.1 and is approximately 60 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase CYLD protein, plays a role in the regulation of both protein ubiquitination and the cell cycle. Mutation of the gene is associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome and may be associated with many types of cancer.;

GenBank Accession Number : AB020656;

Details

Origin ID

C92680;

UMLS CUI

C2985249;

False automatic mappings
- TEM [ICD-11 Extension code]
- Trichoepithelioma, multiple familial, 1 [OMIM Phenotype]
OMIM relation
- Cyld lysine-63 deubiquitinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Cylindroma [NCIt concept]
- Trichoblastoma [NCIt concept]
- Turban Tumor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q12.1 [NCIt concept]
gene_is_element_in_pathway
- Canonical NF-kappaB Signaling Pathway [NCIt concept]
- RIG-I-Like Receptor Signaling Pathway [NCIt concept]
- TNF Receptor Family Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients