TCOF1 wt Allele

Preferred Label : TCOF1 wt Allele;

NCIt synonyms : MFD1; Treacle; Treacher Collins-Franceschetti Syndrome 1 wt Allele;

NCIt definition : Human TCOF1 wild-type allele is located within 5q32-q33.1 and is approximately 43 kb in length. This allele, which encodes treacle protein, may play a fundamental role in early embryonic development, particularly in the development of the craniofacial complex. Mutations in this gene are associated with Treacher Collins syndrome.;

GenBank Accession Number : NM_001008656;

Details

Origin ID

C75598;

UMLS CUI

C2699752;

OMIM relation
- Treacle ribosome biogenesis factor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q32-33.1 [NCIt concept]
gene_plays_role_in_process
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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