Gastrulation brain homeobox 1 (GBX1)

Gastrulation brain homeobox 1 is a protein-coding homeobox transcription factor predicted to enable DNA-binding activity and regulate RNA polymerase II transcription in a sequence-specific manner. GBX1 is essential for neural patterning, specification, and differentiation in the central nervous system, including the forebrain, hindbrain, and spinal cord. It is expressed in neural progenitors and subsets of GABAergic interneurons and is necessary for proper development of motor neurons and inhibitory interneurons. Mutations or altered regulation in GBX1 affect neurodevelopmental processes and are genetically linked to spinocerebellar ataxia 13 and hypophosphatasia, but no drugs currently target or modulate GBX1 directly. GBX1 has context-dependent expression outside neurogenesis, such as in human oocytes, and is dynamically co-expressed with other homeobox genes during brain and spinal cord development

Other names

Homeobox protein GBX-1Gastrulation and brain-specific homeobox protein 1Huh-17GBX1