HOXB1
Function
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.
Involvement in disease
Facial paresis, hereditary congenital, 3
HCFP3
A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Antp homeobox family. Labial subfamily.
Cellular localization
- Nucleus
Alternative names
HOX2I, HOXB1, Homeobox protein Hox-B1, Homeobox protein Hox-2I