PITX1

Highest pathogenic variant AF is 0.0000020524778

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000265340

Coding exons

3

Length

7079

Individuals with no LoFs

121418

Homozygous LoFs

0

Heterozygous LoFs

1

Defined

121419

p

0.00000412

Function

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. {ECO:0000250|UniProtKB:P56673}.;

Disease

DISEASE: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800]: 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. {ECO:0000269|PubMed:18950742, ECO:0000269|PubMed:22258522}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Liebenberg syndrome (LBNBG) [MIM:186550]: An upper limb- malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. {ECO:0000269|PubMed:23022097}. Note=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). {ECO:0000269|PubMed:23022097}.;