HOXA1 gene

homeobox A1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Athabaskan brainstem dysgenesis

From UniProt:

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. [MIM:601536]

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. [MIM:601536]

Cytogenetic Location: 7p15.2, which is the short (p) arm of chromosome 7 at position 15.2

Molecular Location: base pairs 27,092,993 to 27,096,006 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p15.2, which is the short (p) arm of chromosome 7 at position 15.2
  • BSAS
  • HOX1
  • HOX1F