HOXA1 cDNA Clone – Homeobox A1 (Human)

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]

HOXA1: 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. Seems to act in the maintenance and/or generation of hindbrain segments. Defects in HOXA1 are the cause of Athabaskan brainstem dysgenesis syndrome (ABDS); also known as Narvajo brainstem syndrome. This syndrome is characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. Defects in HOXA1 are the cause of Bosley-Salih-Alorainy syndrome (BSAS). Affected individuals show horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. In contrast to individuals with ABSD, central hypoventilation is not observed in individuals with BSAS. Belongs to the Antp homeobox family. Labial subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Oncoprotein; DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 7p15.3

Molecular Function: protein binding

Biological Process: abducens nerve formation; anatomical structure morphogenesis; artery morphogenesis; cognition; embryonic neurocranium morphogenesis; inner ear development; multicellular organismal development; neuromuscular process; optokinetic behavior; outer ear morphogenesis; regulation of behavior; sensory perception of sound

Disease: Athabaskan Brainstem Dysgenesis Syndrome