PITX1/BFT

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Liebenberg syndrome

LBNBG

An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation.

None

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).

Sequence similarities

Belongs to the paired homeobox family. Bicoid subfamily.

Cellular localization

• Nucleus

Alternative names

• Pituitary homeobox 1
• Hindlimb-expressed homeobox protein backfoot
• Homeobox protein PITX1
• Paired-like homeodomain transcription factor 1
• PTX1
• BFT
• PITX1

Database links

• entrezGene:5307
• omim:602149
• swissprot:P78337

Target type

Proteins

Molecular weight

34128Da