PITX1, N (PITX1,N) Human Recombinant Protein

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]

PITX1: 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. Defects in PITX1 are a cause of congenital clubfoot (CCF); also known as talipes equinovarus (TEV). Clubfoot is 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. Clubfoot appears to be a multifactorial trait. Belongs to the paired homeobox family. Bicoid subfamily.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 5q31.1

Cellular Component: transcription factor complex; cytoplasm; nucleolus; nucleus

Biological Process: myoblast cell fate commitment; anatomical structure morphogenesis; transcription, DNA-dependent; pituitary gland development; cartilage development; branchiomeric skeletal muscle development; positive regulation of transcription from RNA polymerase II promoter; skeletal development; embryonic hindlimb morphogenesis

Disease: Liebenberg Syndrome; Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/or Mirror-image Polydactyly