Aliases for MIXL1 Gene
External Ids for MIXL1 Gene
Previous GeneCards Identifiers for MIXL1 Gene
Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]
GeneCards Summary for MIXL1 Gene
MIXL1 (Mix Paired-Like Homeobox) is a Protein Coding gene. Diseases associated with MIXL1 include Uterine Inversion and Retinitis Pigmentosa 14. Among its related pathways are Cardiac Progenitor Differentiation and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is DUX4.
UniProtKB/Swiss-Prot Summary for MIXL1 Gene
Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity).