Gene: PITX1

Alternate names for this Gene: BFT|CCF|LBNBG|POTX|PTX1

Gene Summary: This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: paired like homeodomain 1

Type of Gene: protein-coding

Gene: C5orf66

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs121909109 in PITX1;C5orf66 gene and Congenital clubfoot PMID 18950742 2008 Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

PMID 22258522 2012 Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.