Sequence in raw or FASTA format:
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 [Homo sapiens (human)]
|Entrez Gene ID||3028|
|Full Name||hydroxysteroid (17-beta) dehydrogenase 10|
|Synonyms||17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008].|
17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3);
|hsa00280||Valine, leucine and isoleucine degradation|
|META_FAO-PWY||fatty acid beta-oxidation I|
|HUMAN_ILEUDEG-PWY||isoleucine degradation I|
|HUMAN_FAO-PWY||fatty acid beta-oxidation I|
|REACT_13||Metabolism of amino acids and derivatives|
|REACT_197||Branched-chain amino acid catabolism|
|Homo sapiens (human)||HSD17B10||NP_004484.1|
|Pan troglodytes (chimpanzee)||HSD17B10||XP_003317521.1|
|Macaca mulatta (Rhesus monkey)||HSD17B10||XP_001087982.1|
|Canis lupus familiaris (dog)||HSD17B10||XP_538051.2|
|Bos taurus (cattle)||HSD17B10||NP_776759.1|
|Mus musculus (house mouse)||Hsd17b10||NP_058043.3|
|Rattus norvegicus (Norway rat)||Hsd17b10||NP_113870.1|
|Danio rerio (zebrafish)||hsd17b10||NP_001006098.1|
|Drosophila melanogaster (fruit fly)||scu||NP_523396.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||hsd17b10||NP_001016511.1|
|GO:0006629||lipid metabolic process||TAS|
|GO:0009083||branched-chain amino acid catabolic process||TAS|
|GO:0034641||cellular nitrogen compound metabolic process||TAS|
|GO:0044281||small molecule metabolic process||TAS|
|GO:0005743||mitochondrial inner membrane||IEA|
|GO:0003857||3-hydroxyacyl-CoA dehydrogenase activity||EXP|
|GO:0008709||cholate 7-alpha-dehydrogenase activity||TAS|
|GO:0030283||testosterone dehydrogenase [NAD(P)] activity||IEA|
|GO:0044822||poly(A) RNA binding||IDA|
|GO:0047015||3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity||IEA|
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.
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