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Reviewed April 2010
What is the official name of the HAX1 gene?
The official name of this gene is “HCLS1 associated protein X-1.”
HAX1 is the gene's official symbol. The HAX1 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 HAX1 gene?
The HAX1 gene provides instructions for making a protein called HS-1-associated protein X-1 (HAX-1). This protein is involved in the regulation of apoptosis, which is the process by which cells self-destruct when they are damaged or no longer needed. Apoptosis is a common process that occurs throughout life. The HAX-1 protein is also thought to be involved in cell movement (migration). The HAX-1 protein is found primarily in the mitochondria, the energy-producing centers within cells.
Different versions of the HAX-1 protein can be produced from the HAX1 gene by a mechanism called alternative splicing. This mechanism produces different version of the protein by cutting and rearranging the genetic instructions in different ways. The purpose of these multiple versions of the HAX-1 protein is unclear.
How are changes in the HAX1 gene related to health conditions?
Where is the HAX1 gene located?
Cytogenetic Location: 1q21.3
Molecular Location on chromosome 1: base pairs 154,245,038 to 154,248,350
The HAX1 gene is located on the long (q) arm of chromosome 1 at position 21.3.
More precisely, the HAX1 gene is located from base pair 154,245,038 to base pair 154,248,350 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HAX1?
You and your healthcare professional may find the following resources about HAX1 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 HAX1 gene or gene products?
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 HAX1?
acids ; alternative splicing ; apoptosis ; cell ; congenital ; deficiency ; developmental delay ; gene ; infection ; inflammation ; mitochondria ; neurological ; neutropenia ; neutrophils ; protein ; splicing
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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.