CTDNEP1 wt Allele

Preferred Label : CTDNEP1 wt Allele;

NCIt synonyms : HSA011916; DULLARD; NET56; CTD Nuclear Envelope Phosphatase 1 wt Allele;

NCIt definition : Human CTDNEP1 wild-type allele is located in the vicinity of 17p13 and is approximately 8 kb in length. This allele, which encodes CTD nuclear envelope phosphatase 1 protein, is involved in the modulation of fatty acid phosphatases.;

NCIt note : Mutation of the CTDNEP1 gene may be associated with medulloblastoma. (Nature. 2012; 488:106-110 and Nature. 2012; 488:100-105.);

GenBank Accession Number : AJ011916;

Details

Origin ID

C102889;

UMLS CUI

C3540582;

OMIM relation
- C-terminal domain nuclear envelope phosphatase 1 [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13 [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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