ACD wt Allele - CISMeF

Preferred Label : ACD wt Allele;

NCIt synonyms : ACD, Shelterin Complex Subunit and Telomerase Recruitment Factor wt Allele; ACD, Mouse, Homolog of Gene; PIP1; TPP1; PTOP; Adrenocortical Dysplasia Homolog (Mouse) Gene;

NCIt definition : Human ACD wild-type allele is located in the vicinity of 16q22.1 and is approximately 3 kb in length. This allele, which encodes adrenocortical dysplasia protein homolog, is involved in telomere protection.;

NCIt note : Mutation of the ACD gene may be associated with Hoyeraal-Hreidarsson syndrome, which is a severe form of dyskeratosis congenita. (Genes and Dev. 2014; 28:2090-2102. doi:10.1101/gad.248567.114);

GenBank Accession Number : AF070535;

Details

Origin ID

C119708;

UMLS CUI

C3890178;

Automatic exact mappings (from CISMeF team)
- ACD shelterin complex subunit and telomerase recruitment factor [ORDO Gene]
- Acd shelterin complex subunit and telomerase recruitment factor [OMIM gene]
- P21-activated kinase- and phospholipase C-interacting protein 1 [OMIM gene]
- Tripeptidyl peptidase I [OMIM gene]
- tripeptidyl peptidase 1 [ORDO Gene]
OMIM relation
- Acd shelterin complex subunit and telomerase recruitment factor [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
- 16q22.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_is_element_in_pathway
- Telomerase Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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