Treacle Protein

Preferred Label : Treacle Protein;

NCIt synonyms : Treacher Collins Syndrome Protein; TCOF1;

NCIt definition : Treacle protein (1488 aa, 152 kDa) is encoded by the human TCOF1 gene. This protein plays a role in skeletal development.;

Details

Origin ID

C75599;

UMLS CUI

C0537937;

OMIM relation
- Treacle ribosome biogenesis factor 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- TCOF1 protein, human [MeSH Supplementary Concept]
- TCOF1 protein, human [MeSH concept]
gene_encodes_gene_product
- Regulatory Gene [NCIt concept]
- TCOF1 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleolus [NCIt concept]
gene_product_malfunction_associated_with_disease
- Treacher Collins Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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