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HSD17B10
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HSD17B10On this page:
Reviewed October 2009
What is the official name of the HSD17B10 gene?The official name of this gene is “hydroxysteroid (17-beta) dehydrogenase 10.” HSD17B10 is the gene's official symbol. The HSD17B10 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 HSD17B10 gene?The HSD17B10 gene provides instructions for making an enzyme called HSD10, which is found in many areas of the body. The HSD10 enzyme is located within mitochondria, the energy-producing centers inside cells, where it has several different functions. The HSD10 enzyme plays an important role in processing steroid hormones and fats. This enzyme also helps break down the protein building block (amino acid) isoleucine. Specifically, it is responsible for the fifth step in this process, in which 2-methyl-3-hydroxybutyryl-CoA is converted into 2-methylacetoacetyl-CoA. Through a similar method, the HSD10 enzyme processes a group of fats called branched-chain fatty acids. This enzyme is also necessary for several chemical reactions involving female sex hormones (estrogens) and male sex hormones (androgens). HSD10 inactivates a potent form of estrogen called 17β-estradiol by converting it to a weaker form called estrone. This enzyme also generates a potent androgen called dihydrotestosterone from a weak androgen called 3α-androstanediol. The HSD10 enzyme is essential for maintaining appropriate levels of male and female sex hormones. The HSD10 enzyme is needed for certain chemical reactions involving neurosteroids, which are substances that regulate the activity of the nervous system. This enzyme inactivates two neurosteroids called allopregnanolone and allotetrahydrodeoxycorticosterone. These neurosteroids interact with receptors that prevent the brain from being overloaded with too many signals. By regulating the activity of these neurosteroids, the HSD10 enzyme helps maintain normal brain function. Does the HSD17B10 gene share characteristics with other genes?The HSD17B10 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 HSD17B10 gene related to health conditions?
Where is the HSD17B10 gene located?Cytogenetic Location: Xp11.2 Molecular Location on the X chromosome: base pairs 53,458,205 to 53,461,322 The HSD17B10 gene is located on the short (p) arm of the X chromosome at position 11.2. More precisely, the HSD17B10 gene is located from base pair 53,458,205 to base pair 53,461,322 on the X chromosome. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about HSD17B10?You and your healthcare professional may find the following resources about HSD17B10 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 HSD17B10 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 HSD17B10?acids ; adenine ; amino acid ; amyloid ; androgens ; cell ; chromosome ; CoA ; deficiency ; dehydrogenase ; dihydrotestosterone ; DNA ; duplication ; endoplasmic reticulum ; enzyme ; fatty acids ; gene ; hormone ; isoforms ; isoleucine ; mental retardation ; methyl ; mitochondria ; mutation ; nervous system ; neurological ; nucleotide ; peptide ; protein ; receptor ; reductases ; sex hormone ; sign ; steroids ; symptom You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology.
References (12 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. |