HOXA1

Homeobox protein Hox-A1 ;
Homeobox protein Hox-1F ;

disease:Defects in HOXA1 are the cause of Athabaskan brainstem dysgenesis syndrome (ABSD) [MIM:601536]; 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.,disease:Defects in HOXA1 are the cause of Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]. 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.,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. Seems to act in the maintenance and/or generation of hindbrain segments.,similarity:Belongs to the Antp homeobox family. Labial subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,

cell morphogenesis, cell morphogenesis involved in differentiation, regionalization, transcription, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, cell motion, pattern specification process, axonogenesis, axon guidance, sensory organ development, motor axon guidance, positive regulation of biosynthetic process, anterior/posterior pattern formation, positive regulation of macromolecule biosynthetic process, positive regulation of macromolecule metabolic process, positive regulation of gene expression,cranial nerve development, rhombomere development, pons development, facial nerve development, rhombomere 3 development, rhombomere 4 development, rhombomere 5 development, cranial nerve morphogenesis, cranial nerve structural organization, facial nerve morphogenesis, facial nerve structural organization, nerve development, facial nucleus development, preganglionic parasympathetic nervous system development, central nervous system neuron differentiation, metencephalon development, cell projection organization, neuron differentiation, hindbrain development, neuron projection development, positive regulation of cellular biosynthetic process, cellular component morphogenesis, cell part morphogenesis, ear morphogenesis, inner ear morphogenesis, ear development, regulation of transcription, positive regulation of transcription, DNA-dependent, positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of transcription, positive regulation of transcription from RNA polymerase II promoter, autonomic nervous system development, parasympathetic nervous system development, anatomical structure arrangement, embryonic organ morphogenesis, embryonic organ development,embryonic morphogenesis, neuron development, cell morphogenesis involved in neuron differentiation, neuron projection morphogenesis, inner ear development, neural nucleus development, cell projection morphogenesis,positive regulation of nitrogen compound metabolic process, regulation of RNA metabolic process, positive regulation of RNA metabolic process,

Nucleus .