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]
Function:
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.
Subcellular Location:
Nucleus.
DISEASE:
Defects in PITX1 are a cause of congenital clubfoot (CCF) [MIM:13960]; 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.
Similarity:
Belongs to the paired homeobox family. Bicoid subfamily.
Contains 1 homeobox DNA-binding domain.
SWISS:
P78337
Gene ID:
5307
Database links:
Entrez Gene: 5307 Human
Entrez Gene: 374201 Chicken
Entrez Gene: 18740 Mouse
Entrez Gene: 113983 Rat
Omim: 602149 Human
SwissProt: P56673 Chicken
SwissProt: P78337 Human
SwissProt: P70314 Mouse
SwissProt: Q99NA7 Rat
Unigene: 84136 Human
Unigene: 135195 Mouse
Unigene: 74248 Rat
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