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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.
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| Protein type: DNA binding protein |
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Cellular Component: transcription factor complex; cytoplasm; nucleolus
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Molecular Function: sequence-specific DNA binding; transcription factor activity
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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; embryonic hindlimb morphogenesis; skeletal development
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Reference #:
P78337 (UniProtKB)
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| 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 |
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Molecular weight: 34,128 Da
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Basal Isoelectric point: 9.13
Predict pI for various phosphorylation states
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