PITX1

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. [provided by RefSeq]

Full Name

paired-like homeodomain 1

Function

Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.

Biological Process

Anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Branchiomeric skeletal muscle developmentIEA:Ensembl
Cartilage developmentIEA:Ensembl
Embryonic hindlimb morphogenesisIEA:Ensembl
Myoblast fate commitmentIEA:Ensembl
Negative regulation of transcription, DNA-templatedIEA:Ensembl
Pituitary gland developmentIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Skeletal system developmentManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Nucleus

Involvement in disease

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF):
A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.
Liebenberg syndrome (LBNBG):
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1 locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the forelimb via the activation of ectopic enhancers (PubMed:23022097).