Hox-A1 Antibody

Homeobox protein Hox-A1 (HOXA1) is a sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. HOXA1 plays a role in the development and maintenance of hindbrain segments. Defects in HOXA1 are the cause of Athabaskan brainstem dysgenesis syndrome (ABSD), also known as Narvajo brainstem syndrome. This syndrome is characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients have swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.