C204495Level 6
PITX1 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - BFT - Backfoot, Mouse, Homolog of Gene - CCF - Hindlimb Expressed Homeobox Protein Backfoot Gene - LBNBG - POTX - PTX1 - Paired Like Homeodomain 1 wt Allele - Paired-Like Homeodomain 1 Gene - Pituitary Homeo Box 1 Gene - Pituitary Otx-Related Factor Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.