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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is PITX3.
UniProtKB/Swiss-Prot for PITX1 Gene
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.