PITX1 wt Allele

Preferred Label : PITX1 wt Allele;

NCIt synonyms : BFT; Pituitary Otx-Related Factor Gene; PTX1; LBNBG; POTX; Paired Like Homeodomain 1 wt Allele; Paired-Like Homeodomain 1 Gene; Hindlimb Expressed Homeobox Protein Backfoot Gene; CCF; Pituitary Homeo Box 1 Gene; Backfoot, Mouse, Homolog of Gene;

NCIt definition : Human PITX1 wild-type allele is located in the vicinity of 5q31.1 and is approximately 7 kb in length. This allele, which encodes pituitary homeobox 1 protein, is involved in the development of anterior structures. Mutations in the gene are associated with congenital clubfoot, with or without deficiency of long bones and/or mirror-image polydactyly.;

NCI Metathesaurus CUI : CL1926583;

GenBank Accession Number : AF009648;

Details

Origin ID

C204495;

UMLS CUI

C5890915;

OMIM relation
- Paired-like homeodomain transcription factor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q31.1 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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