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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


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

What is the official name of the HOXA1 gene?

The official name of this gene is “homeobox A1.”

HOXA1 is the gene's official symbol. The HOXA1 gene is also known by other names, listed below.

What is the normal function of the HOXA1 gene?

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.

How are changes in the HOXA1 gene related to health conditions?

UniProt ( provides the following information about the HOXA1 gene's known or predicted involvement in human disease.

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. The disease is caused by mutations affecting the gene represented in this entry.

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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene ( lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the HOXA1 gene.
  • Athabaskan brainstem dysgenesis (, a catalog designed for genetics professionals and researchers, provides the following information about the HOXA1 gene and its association with health conditions.

Where is the HOXA1 gene located?

Cytogenetic Location: 7p15.3

Molecular Location on chromosome 7: base pairs 27,092,992 to 27,096,005

The HOXA1 gene is located on the short (p) arm of chromosome 7 at position 15.3.

The HOXA1 gene is located on the short (p) arm of chromosome 7 at position 15.3.

More precisely, the HOXA1 gene is located from base pair 27,092,992 to base pair 27,096,005 on chromosome 7.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about HOXA1?

You and your healthcare professional may find the following resources about HOXA1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the HOXA1 gene or gene products?

  • BSAS
  • HOX1
  • HOX1F

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding HOXA1?

anterior ; arteries ; autism ; axis ; brainstem ; cardiac ; chromosome ; class ; developmental delay ; differentiation ; DNA ; dysgenesis ; embryonic ; gene ; gene expression ; homeobox ; homeodomain ; hypoventilation ; isoforms ; mental retardation ; palsy ; posterior ; protein ; sensorineural ; spectrum ; syndrome ; transcript ; transcription ; transcription factor ; vascular

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Published: May 4, 2015