Adrenocortical Dysplasia Protein Homolog

Preferred Label : Adrenocortical Dysplasia Protein Homolog;

NCIt synonyms : TIN2-Interacting Protein 1; POT1-Interacting Protein 1; TIN2 Interacting Protein 1; POT1 and TIN2 Organizing Protein; POT1- and TIN2- Organizing Protein; POT1 and TIN2-Interacting Protein; Telomere Protein TPP1; ACD;

NCIt definition : Adrenocortical dysplasia protein homolog (544 aa, 58 kDa) is encoded by the human ACD gene. This protein plays a role in both the elongation and maintenance of telomeres.;

Details

Origin ID

C119709;

UMLS CUI

C1565285;

Automatic exact mappings (from CISMeF team)
- ACD shelterin complex subunit and telomerase recruitment factor [ORDO Gene]
- ACD shelterin complex subunit and telomerase recruitment factor [HGNC gene]
- Acd shelterin complex subunit and telomerase recruitment factor [OMIM gene]
- Adult form of celiac disease (disorder) [SNOMED CT concept]
- Amyloidosis, primary localized cutaneous, 3 [OMIM Phenotype]
- Coeliac disease [ICD-11 Category]
- Corneal dystrophy, avellino type [OMIM Phenotype]
OMIM relation
- Acd shelterin complex subunit and telomerase recruitment factor [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- ACD protein, human [MeSH Supplementary Concept]
- ACD protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ACD Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
gene_product_has_associated_anatomy
- Telomere [NCIt concept]
gene_product_is_element_in_pathway
- Telomerase Regulation Pathway [NCIt concept]
gene_product_is_physical_part_of
- Shelterin [NCIt concept]
gene_product_plays_role_in_biological_process
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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