Aliases for DMBX1 Gene
External Ids for DMBX1 Gene
Previous HGNC Symbols for DMBX1 Gene
Previous GeneCards Identifiers for DMBX1 Gene
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for DMBX1 Gene
DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a Protein Coding gene. Diseases associated with DMBX1 include Childhood Type Dermatomyositis and Adult Dermatomyositis. Among its related pathways are Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is ARX.
UniProtKB/Swiss-Prot for DMBX1 Gene
Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development (By similarity).