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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. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 5q31.1
Cellular Component: cytoplasm; nucleolus; nucleus; transcription factor complex
Molecular Function: DNA binding transcription factor activity; protein binding
Biological Process: anatomical structure morphogenesis; branchiomeric skeletal muscle development; cartilage development; embryonic hindlimb morphogenesis; myoblast cell fate commitment; negative regulation of transcription, DNA-dependent; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; skeletal system development; transcription from RNA polymerase II promoter
Disease: Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/or Mirror-image Polydactyly; Liebenberg Syndrome
Reference #:  P78337 (UniProtKB)
Alt. Names/Synonyms: BFT; CCF; hindlimb expressed homeobox protein backfoot; Hindlimb-expressed homeobox protein backfoot; Homeobox protein PITX1; paired-like homeodomain 1; Paired-like homeodomain transcription factor 1; pituitary homeo box 1; Pituitary homeobox 1; pituitary otx-related factor; PITX1; POTX; PTX1
Gene Symbols: PITX1
Molecular weight: 34,128 Da
Basal Isoelectric point: 9.13  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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