PITX1

paired like homeodomain 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Talipes equinovarus
  • Liebenberg syndrome

From UniProt:

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. [MIM:119800]

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. [MIM:186550]

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1

Molecular Location: base pairs 135,027,734 to 135,034,274 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1
  • BFT
  • CCF
  • LBNBG
  • POTX
  • PTX1