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Reviewed December 2014
What is the official name of the HSD17B4 gene?
The official name of this gene is “hydroxysteroid (17-beta) dehydrogenase 4.”
HSD17B4 is the gene's official symbol. The HSD17B4 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 HSD17B4 gene?
The HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions take place. D-bifunctional protein is so named because it aids in two biochemical reactions.
The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.
Does the HSD17B4 gene share characteristics with other genes?
The HSD17B4 gene belongs to a family of genes called SDR (short chain dehydrogenase/reductase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the HSD17B4 gene related to health conditions?
Where is the HSD17B4 gene located?
Cytogenetic Location: 5q21
Molecular Location on chromosome 5: base pairs 119,452,443 to 119,542,335
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The HSD17B4 gene is located on the long (q) arm of chromosome 5 at position 21.
More precisely, the HSD17B4 gene is located from base pair 119,452,443 to base pair 119,542,335 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HSD17B4?
You and your healthcare professional may find the following resources about HSD17B4 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 HSD17B4 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 HSD17B4?
acids ; breakdown ; cell ; CoA ; deficiency ; dehydrogenase ; enzyme ; fatty acids ; gene ; leukodystrophy ; molecule ; nervous system ; neurological ; ovarian ; oxidation ; peroxisomes ; protein ; syndrome ; tissue ; white matter
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.