Aliases for PITX1 Gene
External Ids for PITX1 Gene
Previous HGNC Symbols for PITX1 Gene
Previous GeneCards Identifiers for PITX1 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]
GeneCards Summary for PITX1 Gene
PITX1 (Paired Like Homeodomain 1) is a Protein Coding gene. Diseases associated with PITX1 include Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly and Liebenberg Syndrome. Among its related pathways are DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is PITX2.
UniProtKB/Swiss-Prot for PITX1 Gene
Sequence-specific transcription factor that binds gene promoters and activates their transcription. 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.