Details for: HSD17B10

Gene ID: 3028

Symbol: HSD17B10

Ensembl ID: ENSG00000072506

Description: hydroxysteroid 17-beta dehydrogenase 10

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 171.1399
    Cell Significance Index: -26.6200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 111.0335
    Cell Significance Index: -45.7400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 100.6926
    Cell Significance Index: -25.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 81.2077
    Cell Significance Index: -38.3400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 80.6632
    Cell Significance Index: -32.7700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 71.7167
    Cell Significance Index: -36.8900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.2451
    Cell Significance Index: -33.6500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 28.2492
    Cell Significance Index: -34.8300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.7283
    Cell Significance Index: -29.8800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.4778
    Cell Significance Index: -37.4000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.0362
    Cell Significance Index: -16.1700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.7807
    Cell Significance Index: 38.1700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 3.3691
    Cell Significance Index: 28.3000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.4446
    Cell Significance Index: 51.1700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.9841
    Cell Significance Index: 21.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.9702
    Cell Significance Index: 214.3000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.8989
    Cell Significance Index: 221.2900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.5733
    Cell Significance Index: 117.2600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.4859
    Cell Significance Index: 43.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.4825
    Cell Significance Index: 51.5200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.4691
    Cell Significance Index: 38.6300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.4576
    Cell Significance Index: 67.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.4349
    Cell Significance Index: 92.5800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.3281
    Cell Significance Index: 182.3800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.2437
    Cell Significance Index: 87.9600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1650
    Cell Significance Index: 31.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0798
    Cell Significance Index: 194.6500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0481
    Cell Significance Index: 463.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.0354
    Cell Significance Index: 122.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.9562
    Cell Significance Index: 44.9400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.9484
    Cell Significance Index: 122.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9354
    Cell Significance Index: 115.0200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8066
    Cell Significance Index: 41.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8058
    Cell Significance Index: 440.0800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.8036
    Cell Significance Index: 7.4000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.7471
    Cell Significance Index: 95.7800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7212
    Cell Significance Index: 9.8400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6754
    Cell Significance Index: 46.7100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6071
    Cell Significance Index: 98.7500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6054
    Cell Significance Index: 115.2100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.5889
    Cell Significance Index: 6.6900
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.5324
    Cell Significance Index: 4.0200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5070
    Cell Significance Index: 26.4100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4807
    Cell Significance Index: 47.5500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4223
    Cell Significance Index: 381.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3847
    Cell Significance Index: 65.6900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.3719
    Cell Significance Index: 3.8500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2917
    Cell Significance Index: 6.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2491
    Cell Significance Index: 11.2900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1864
    Cell Significance Index: 5.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1715
    Cell Significance Index: 34.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1657
    Cell Significance Index: 3.5900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.1421
    Cell Significance Index: 1.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0851
    Cell Significance Index: 2.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0830
    Cell Significance Index: 62.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0603
    Cell Significance Index: 44.1800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0478
    Cell Significance Index: 0.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0195
    Cell Significance Index: 0.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0013
    Cell Significance Index: -0.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0046
    Cell Significance Index: -2.9000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0143
    Cell Significance Index: -26.8800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0209
    Cell Significance Index: -2.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0274
    Cell Significance Index: -50.4500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0298
    Cell Significance Index: -0.5500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0331
    Cell Significance Index: -50.9500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0385
    Cell Significance Index: -52.3900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0387
    Cell Significance Index: -4.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0430
    Cell Significance Index: -24.2400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0448
    Cell Significance Index: -28.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0524
    Cell Significance Index: -18.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0681
    Cell Significance Index: -13.6700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0704
    Cell Significance Index: -14.8200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0805
    Cell Significance Index: -36.5300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1039
    Cell Significance Index: -3.6500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1059
    Cell Significance Index: -2.9600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.1261
    Cell Significance Index: -1.3400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1346
    Cell Significance Index: -38.7300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1349
    Cell Significance Index: -3.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1536
    Cell Significance Index: -2.5700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1622
    Cell Significance Index: -12.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2327
    Cell Significance Index: -33.8300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2603
    Cell Significance Index: -29.7100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3122
    Cell Significance Index: -9.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3522
    Cell Significance Index: -7.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3616
    Cell Significance Index: -37.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4360
    Cell Significance Index: -22.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4382
    Cell Significance Index: -27.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4424
    Cell Significance Index: -27.1900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.4444
    Cell Significance Index: -2.7400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.4498
    Cell Significance Index: -6.7400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4740
    Cell Significance Index: -36.3800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4974
    Cell Significance Index: -14.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5233
    Cell Significance Index: -35.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5295
    Cell Significance Index: -29.7100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.6245
    Cell Significance Index: -8.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6351
    Cell Significance Index: -38.9400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6471
    Cell Significance Index: -17.3100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8330
    Cell Significance Index: -30.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8917
    Cell Significance Index: -39.4400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.9403
    Cell Significance Index: -24.1700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HSD17B10 is a cytoplasmic enzyme that exhibits NAD+-dependent 17β-hydroxysteroid dehydrogenase activity. It is a homotetramer composed of two identical subunits, each containing an N-terminal domain, a central catalytic domain, and a C-terminal domain. The enzyme has been shown to exhibit high substrate specificity, primarily targeting androgens, estrogens, and bile acids. HSD17B10 is predominantly expressed in various tissues, including the placenta, skeletal muscle, and immune cells, where it regulates the production of steroid hormones and fatty acids. **Pathways and Functions:** HSD17B10 is involved in multiple metabolic pathways, including: 1. **Androgen Metabolic Process:** HSD17B10 regulates the conversion of androgens to estrogens, which plays a crucial role in maintaining estrogen homeostasis and regulating reproductive functions. 2. **Bile Acid Biosynthesis:** HSD17B10 is involved in the conversion of cholic acid to chenodeoxycholic acid, a bile acid that regulates lipid metabolism and energy homeostasis. 3. **Fatty Acid Metabolism:** HSD17B10 regulates the oxidation of fatty acids, which is essential for energy production and lipid homeostasis. 4. **Testosterone and Estrogen Metabolism:** HSD17B10 is involved in the conversion of testosterone to estrone and other estrogens, which regulates reproductive functions and hormone homeostasis. **Clinical Significance:** Dysregulation of HSD17B10 has been implicated in various diseases, including: 1. **Hormonal Imbalances:** Alterations in HSD17B10 activity have been linked to hormonal imbalances, such as polycystic ovary syndrome (PCOS) and androgenetic alopecia. 2. **Metabolic Disorders:** HSD17B10 has been implicated in the development of metabolic disorders, such as obesity and type 2 diabetes, due to its role in regulating lipid metabolism and energy homeostasis. 3. **Cancer:** HSD17B10 has been shown to be overexpressed in certain types of cancer, including breast and prostate cancer, where it regulates hormone metabolism and tumor growth. In conclusion, HSD17B10 is a vital enzyme that plays a crucial role in regulating various metabolic pathways, including steroid hormone biosynthesis, bile acid synthesis, and fatty acid metabolism. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding its biological significance and clinical relevance.

Genular Protein ID: 474325069

Symbol: HCD2_HUMAN

Name: 3-hydroxyacyl-CoA dehydrogenase type-2

UniProtKB Accession Codes:

Q99714 Q5H927 Q6IBS9 Q8TCV9 Q96HD5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 4 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CPTAC 2 CTD 1 ChEBI 100 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 6 EMBL 13 EMDB 5 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 5 RefSeq 2 Rhea 40 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 2 TreeFam 1 UCSC 1 UniPathway 3 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9338779

Title: An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease.

PubMed ID: 9338779

DOI: 10.1038/39522

PubMed ID: 9671743

Title: Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.

PubMed ID: 9671743

DOI: 10.1073/pnas.95.15.8709

PubMed ID: 9553139

Title: A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease.

PubMed ID: 9553139

DOI: 10.1074/jbc.273.17.10741

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10600649

Title: Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase.

PubMed ID: 10600649

DOI: 10.1042/bj3450139

PubMed ID: 12917011

Title: Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD.

PubMed ID: 12917011

DOI: 10.1042/bj20030877

PubMed ID: 17236142

Title: The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

PubMed ID: 17236142

DOI: 10.1086/511527

PubMed ID: 18984158

Title: RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.

PubMed ID: 18984158

DOI: 10.1016/j.cell.2008.09.013

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23042678

Title: A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.

PubMed ID: 23042678

DOI: 10.1093/nar/gks910

PubMed ID: 24703694

Title: Initial steps in RNA processing and ribosome assembly occur at mitochondrial DNA nucleoids.

PubMed ID: 24703694

DOI: 10.1016/j.cmet.2014.03.013

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26338420

Title: Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.

PubMed ID: 26338420

DOI: 10.1101/gad.268482.115

PubMed ID: 25575635

Title: Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

PubMed ID: 25575635

DOI: 10.1016/j.mito.2014.12.005

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29040705

Title: The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.

PubMed ID: 29040705

DOI: 10.1093/nar/gkx902

PubMed ID: 15342248

Title: Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.

PubMed ID: 15342248

DOI: 10.1016/j.jmb.2004.07.071

PubMed ID: 15087549

Title: ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.

PubMed ID: 15087549

DOI: 10.1126/science.1091230

PubMed ID: 20077426

Title: A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.

PubMed ID: 20077426

DOI: 10.1002/emmm.200900055

PubMed ID: 12696021

Title: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

PubMed ID: 12696021

DOI: 10.1086/375116

PubMed ID: 16148061

Title: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

PubMed ID: 16148061

DOI: 10.1203/01.pdr.0000176916.94328.cd

PubMed ID: 18996107

Title: Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

PubMed ID: 18996107

DOI: 10.1016/j.clinbiochem.2008.10.006

PubMed ID: 19706438

Title: Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

PubMed ID: 19706438

DOI: 10.1073/pnas.0902377106

PubMed ID: 22132097

Title: A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

PubMed ID: 22132097

DOI: 10.1371/journal.pone.0027348

PubMed ID: 24549042

Title: Mutation or knock-down of 17beta-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

PubMed ID: 24549042

DOI: 10.1093/hmg/ddu072

PubMed ID: 25925575

Title: Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.

PubMed ID: 25925575

DOI: 10.1093/nar/gkv408

PubMed ID: 26950678

Title: A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

PubMed ID: 26950678

DOI: 10.1080/15476286.2016.1159381

PubMed ID: 28888424

Title: Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.

PubMed ID: 28888424

DOI: 10.1016/j.bbadis.2017.09.002

Sequence Information:

  • Length: 261
  • Mass: 26923
  • Checksum: 9E74F242E3E6FEF1
  • Sequence:
    • MAAACRSVKG LVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF 
APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV 
NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL 
PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI 
IENPFLNGEV IRLDGAIRMQ P

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.