HOXA1

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.

homeobox A1

Sequence-specific transcription factor (By similarity).

Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570).

Also 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 (By similarity).

Activates transcription in the presence of PBX1A and PKNOX1 (By similarity).

Abducens nerve formation Source: DFLAT
Anatomical structure morphogenesis Source: DFLAT
Artery development Source: DFLAT
Artery morphogenesis Source: DFLAT
Cochlea development Source: DFLAT
Cochlea morphogenesis Source: DFLAT
Cognition Source: DFLAT
Embryonic neurocranium morphogenesis Source: DFLAT
Inner ear development Source: DFLAT
Multicellular organism development Source: ProtInc
Neuromuscular process Source: DFLAT
Optokinetic behavior Source: DFLAT
Outer ear morphogenesis Source: DFLAT
Positive regulation of transcription by RNA polymerase II Source: NTNU_SB
Regulation of behavior Source: DFLAT
Regulation of transcription by RNA polymerase II Source: GO_Central
Semicircular canal formation Source: DFLAT
Sensory perception of sound Source: DFLAT

Nucleus

Athabaskan brainstem dysgenesis syndrome (ABDS):
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.
Bosley-Salih-Alorainy syndrome (BSAS):
A disease characterized by 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. Affected individuals do not suffer from central hypoventilation.