Aliases for HMX1 Gene
External Ids for HMX1 Gene
Previous GeneCards Identifiers for HMX1 Gene
This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
GeneCards Summary for HMX1 Gene
HMX1 (H6 Family Homeobox 1) is a Protein Coding gene. Diseases associated with HMX1 include oculoauricular syndrome and oculoauricular syndrome, schorderet type. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-5.
UniProtKB/Swiss-Prot for HMX1 Gene
DNA-binding protein that binds to the 5-CAAG-3 core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.