Homeobox A1 gene is mapped on chromosome 7p15.2 with base pairs 27,092,992 - 27,096,005 found in clusters A, B, C and D on four separate chromosomes wherein spatially and temporally regulated during embryonic development that encodes DNA binding transcription factor which may regulate gene expression, differentiation and morphogenesis that involved in the placement of hindbrain segments in proper location at the anterior-posterior axis during development.
Homeobox A1 has two transcript variants encoding two different isoforms in which only one contains the homeodomain region. It is induced byretinoic acid cluster genes that shows polymorphism implicated to autism spectrum disorder. A distinct maternal administration of a low dose of vitamin A metabolite retinoic acid is enough to recompense the requirement for HOXA1 deficiency.
Homeobox A1 gene mutation is associated in some human disease like Athabaskan brainstem dysgenesis syndrome, a horizontal gaze palsy, sensorineural deafness, developmental delay and central hypo-ventilation in which individual showing swallowing dysfunction, facial paresis, cardiac outflow tract anomalies and vocal cord paralysis.
Gene name: HOXA1
Protein name: Homeobox protein Hox-A1