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HOXA1
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HOXA1

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

On this page:

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.

Read more about gene names and symbols on the About page.

What is the normal function of the HOXA1 gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the HOXA1 gene's known or predicted involvement in human disease.

Athabaskan brainstem dysgenesis syndrome (ABDS)[1]This link leads to a site outside Genetics Home Reference.: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Bosley-Salih-Alorainy syndrome (BSAS)[1]This link leads to a site outside Genetics Home Reference.: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the HOXA1 gene.
  • Athabaskan brainstem dysgenesis[1]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]601536This link leads to a site outside Genetics Home Reference.ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
142955This link leads to a site outside Genetics Home Reference.HOMEOBOX A1

Where is the HOXA1 gene located?

Cytogenetic Location: 7p15.3

Molecular Location on chromosome 7: base pairs 27,132,611 to 27,135,624

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 27,132,611 to base pair 27,135,624 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.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding HOXA1?

anterior ; arteries ; autism ; axis ; 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.

See also Understanding Medical Terminology.

 

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 20, 2013