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Aliases for HSD17B10 Gene

Aliases for HSD17B10 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 10 2 3 5
  • Endoplasmic Reticulum-Associated Amyloid Beta-Peptide-Binding Protein 3 4
  • Short Chain Dehydrogenase/Reductase Family 5C Member 1 3 4
  • 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase 3 4
  • Mitochondrial Ribonuclease P Protein 2 3 4
  • AB-Binding Alcohol Dehydrogenase 2 3
  • Mitochondrial RNase P Subunit 2 2 3
  • SDR5C1 3 4
  • SCHAD 3 4
  • HADH2 3 4
  • MRPP2 3 4
  • ERAB 3 4
  • Hydroxyacyl-Coenzyme A Dehydrogenase, Type II, Hydroxyacyl-Coenzyme A Dehydrogenase, Type II 2
  • Short Chain Dehydrogenase/Reductase Family 5C, Member 1 3
  • Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase Type 2 3
  • Amyloid-Beta Peptide Binding Alcohol Dehydrogenase 3
  • Short Chain Type Dehydrogenase/Reductase XH98G2 3
  • Short-Chain Type Dehydrogenase/Reductase XH98G2 4
  • Short Chain Dehydrogenase/Reductase Family 5C 2
  • Type 10 17beta-Hydroxysteroid Dehydrogenase 2
  • Mental Retardation, X-Linked, Syndromic 10 2
  • 17-Beta-Hydroxysteroid Dehydrogenase 10 4
  • 3-Hydroxyacyl-CoA Dehydrogenase Type II 4
  • Hydroxysteroid Dehydrogenase 10 3
  • Mitochondrial RNase P Protein 2 4
  • Type 10 17b-HSD 2
  • 17-Beta-HSD 10 4
  • Type II HADH 4
  • EC 1.1.1.178 4
  • EC 1.1.1.35 4
  • EC 1.1.1.51 4
  • DUPXp11.22 3
  • 17b-HSD10 3
  • Member 1 2
  • MRXS10 3
  • XH98G2 4
  • MRX17 3
  • MRX31 3
  • ABAD 3
  • CAMR 3
  • HCD2 3
  • MHBD 3

External Ids for HSD17B10 Gene

Previous HGNC Symbols for HSD17B10 Gene

  • HADH2
  • MRXS10

Previous GeneCards Identifiers for HSD17B10 Gene

  • GC0XM053475
  • GC0XM050515

Summaries for HSD17B10 Gene

Entrez Gene Summary for HSD17B10 Gene

  • 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 and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

GeneCards Summary for HSD17B10 Gene

HSD17B10 (Hydroxysteroid (17-Beta) Dehydrogenase 10) is a Protein Coding gene. Diseases associated with HSD17B10 include 17-beta-hydroxysteroid dehydrogenase x deficiency and hsd10 disease, infantile type. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include poly(A) RNA binding and 3-hydroxyacyl-CoA dehydrogenase activity. An important paralog of this gene is DECR2.

UniProtKB/Swiss-Prot for HSD17B10 Gene

  • Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5-ends. Catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD).

Gene Wiki entry for HSD17B10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B10 Gene

Genomics for HSD17B10 Gene

Regulatory Elements for HSD17B10 Gene

Promoters for HSD17B10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD17B10 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD17B10 Gene

Chromosome:
X
Start:
53,431,258 bp from pter
End:
53,434,376 bp from pter
Size:
3,119 bases
Orientation:
Minus strand

Genomic View for HSD17B10 Gene

Genes around HSD17B10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B10 Gene

Proteins for HSD17B10 Gene

  • Protein details for HSD17B10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99714-HCD2_HUMAN
    Recommended name:
    3-hydroxyacyl-CoA dehydrogenase type-2
    Protein Accession:
    Q99714
    Secondary Accessions:
    • Q5H927
    • Q6IBS9
    • Q8TCV9
    • Q96HD5

    Protein attributes for HSD17B10 Gene

    Size:
    261 amino acids
    Molecular mass:
    26923 Da
    Quaternary structure:
    • Homotetramer (By similarity). Interacts with MRPP1/TRMT10C and MRPP3/KIAA0391.

    Three dimensional structures from OCA and Proteopedia for HSD17B10 Gene

    Alternative splice isoforms for HSD17B10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B10 Gene

Proteomics data for HSD17B10 Gene at MOPED

Post-translational modifications for HSD17B10 Gene

  • Ubiquitination at Lys 99
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B10 Gene

Antibody Products

No data available for DME Specific Peptides for HSD17B10 Gene

Domains & Families for HSD17B10 Gene

Suggested Antigen Peptide Sequences for HSD17B10 Gene

Graphical View of Domain Structure for InterPro Entry

Q99714

UniProtKB/Swiss-Prot:

HCD2_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B10: view

Function for HSD17B10 Gene

Molecular function for HSD17B10 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=25.7 uM for acetoacetyl-CoA (in the presence of 0.2 mM NADH, at pH 7.0 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=85.2 uM for beta-hydroxybutyryl-CoA (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=41 uM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=5 uM for 5-alpha-pregnan-20-beta-ol-3-one (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=219 uM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=36.4 uM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=1.7 uM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=30.6 uM for NADH (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=42.3 uM for NAD (in the presence of beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; pH dependence: Optimum pH is 9.3 for the dehydrogenase reaction at 25 degrees Celsius, and 7.0 for the reductase reaction at 25 degrees Celsius. {ECO:0000269 PubMed:12917011};
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methylacetoacetyl-CoA + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + NAD(P)(+) = androst-4-ene-3,17-dione + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5-ends. Catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD).

Enzyme Numbers (IUBMB) for HSD17B10 Gene

Gene Ontology (GO) - Molecular Function for HSD17B10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
GO:0008709 cholate 7-alpha-dehydrogenase activity TAS 9338779
GO:0016491 oxidoreductase activity IEA --
GO:0018454 acetoacetyl-CoA reductase activity IEA --
GO:0030283 testosterone dehydrogenase [NAD(P)] activity IEA --
genes like me logo Genes that share ontologies with HSD17B10: view
genes like me logo Genes that share phenotypes with HSD17B10: view

Human Phenotype Ontology for HSD17B10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HSD17B10 Gene

Localization for HSD17B10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B10 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B10 Gene COMPARTMENTS Subcellular localization image for HSD17B10 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
endoplasmic reticulum 2
golgi apparatus 2
nucleus 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for HSD17B10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,ISS --
genes like me logo Genes that share ontologies with HSD17B10: view

Pathways & Interactions for HSD17B10 Gene

genes like me logo Genes that share pathways with HSD17B10: view

Gene Ontology (GO) - Biological Process for HSD17B10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007569 cell aging IEA --
GO:0033327 Leydig cell differentiation IEA --
GO:0051289 protein homotetramerization IEA --
GO:0070901 mitochondrial tRNA methylation TAS --
genes like me logo Genes that share ontologies with HSD17B10: view

No data available for SIGNOR curated interactions for HSD17B10 Gene

Drugs & Compounds for HSD17B10 Gene

(15) Drugs for HSD17B10 Gene - From: HMDB, DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 898
Trilostane Approved, Investigational, Withdrawn Pharma 2
1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma 0
NADH Nutra Target 0

(32) Additional Compounds for HSD17B10 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methyl-3-hydroxybutyryl-coa
  • (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA
  • (2S,3S)-3-hydroxy-2-methylbutanoyl-Coenzyme A
  • (2S,3S)-3-hydroxy-2-methylbutyryl-CoA
  • (2S,3S)-3-hydroxy-2-methylbutyryl-Coenzyme A
  • (S)-3-hydroxy-2-methylbutyryl-CoA
52227-66-4
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-hydroxydodecanoyl-coenzyme A
  • (S)-3-hydroxylauroyl-CoA
  • (S)-3-hydroxylauroyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
  • (S)-3-hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-Coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-CoA.
  • (S)-3-Hydroxytetradecanoyl-Coenzyme A.
(S)-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-Coenzyme A
  • 3-Hydroxydecanoyl-CoA
  • 3-Hydroxydecanoyl-Coenzyme A
  • 3S-Hydroxy-decanoyl-CoA
6245-70-1

(7) ApexBio Compounds for HSD17B10 Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with HSD17B10: view

Transcripts for HSD17B10 Gene

Unigene Clusters for HSD17B10 Gene

Hydroxysteroid (17-beta) dehydrogenase 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B10 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: - - -
SP6: -

Relevant External Links for HSD17B10 Gene

GeneLoc Exon Structure for
HSD17B10
ECgene alternative splicing isoforms for
HSD17B10

Expression for HSD17B10 Gene

mRNA expression in normal human tissues for HSD17B10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSD17B10 Gene



SOURCE GeneReport for Unigene cluster for HSD17B10 Gene Hs.171280

mRNA Expression by UniProt/SwissProt for HSD17B10 Gene

Q99714-HCD2_HUMAN
Tissue specificity: Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD.
genes like me logo Genes that share expression patterns with HSD17B10: view

Protein tissue co-expression partners for HSD17B10 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for HSD17B10 Gene

Orthologs for HSD17B10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD17B10 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD17B10 35
  • 90.17 (n)
  • 91.95 (a)
HSD17B10 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B10 35
  • 88.89 (n)
  • 91.95 (a)
HSD17B10 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b10 35
  • 85.44 (n)
  • 87.74 (a)
Hsd17b10 16
Hsd17b10 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD17B10 35
  • 99.74 (n)
  • 100 (a)
HSD17B10 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b10 35
  • 86.08 (n)
  • 88.12 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD17B10 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B10 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 81 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HSD17B10 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b10 35
  • 71.3 (n)
  • 76.83 (a)
Str.8711 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7710 35
zebrafish
(Danio rerio)
Actinopterygii hsd17b10 35
  • 67.7 (n)
  • 74.52 (a)
hsd17b10 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9437 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003414 35
  • 64.83 (n)
  • 68.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta scu 35
  • 66.93 (n)
  • 68.9 (a)
scu 36
  • 69 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ard-1 35
  • 56.73 (n)
  • 60.39 (a)
ard-1 36
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3465 35
bread mold
(Neurospora crassa)
Ascomycetes NCU11196 35
  • 51.21 (n)
  • 42.34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.827 36
  • 68 (a)
OneToOne
Species with no ortholog for HSD17B10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD17B10 Gene

ENSEMBL:
Gene Tree for HSD17B10 (if available)
TreeFam:
Gene Tree for HSD17B10 (if available)

Paralogs for HSD17B10 Gene

Paralogs for HSD17B10 Gene

(3) SIMAP similar genes for HSD17B10 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HSD17B10: view

Variants for HSD17B10 Gene

Sequence variations from dbSNP and Humsavar for HSD17B10 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) 53,432,110(-) TGAAT(C/G)TCATG reference, missense
rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) 53,432,086(-) TGATC(C/T)GCCTG reference, missense
VAR_032093 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
rs1264014 -- 53,434,412(+) GCGAA(C/G)CGGCG upstream-variant-2KB
rs12846968 -- 53,433,959(+) CTGTT(C/T)TCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B10 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073
nsv6908 CNV Insertion 18451855

Variation tolerance for HSD17B10 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD17B10 Gene

HapMap Linkage Disequilibrium report
HSD17B10
Human Gene Mutation Database (HGMD)
HSD17B10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B10 Gene

Disorders for HSD17B10 Gene

MalaCards: The human disease database

(11) MalaCards diseases for HSD17B10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
17-beta-hydroxysteroid dehydrogenase x deficiency
  • 17-beta-hydroxysteroid dehydrogenase x
hsd10 disease, infantile type
  • 2-methyl-3-hydroxybutyric aciduria, classic type
hsd10 disease, neonatal type
  • 2-methyl-3-hydroxybutyric aciduria, neonatal type
hsd10 disease, atypical type
  • hsd10 deficiency, atypical type
2-methylbutyryl-coa dehydrogenase deficiency
  • 2-methylbutyric aciduria
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HCD2_HUMAN
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]: A disorder that leads to neurological abnormalities, including psychomotor retardation and, in virtually all patients, loss of mental and motor skills. {ECO:0000269 PubMed:12696021, ECO:0000269 PubMed:16148061}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:18252223}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation.
  • Mental retardation, X-linked, syndromic, 10 (MRXS10) [MIM:300220]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS10 patients manifest mild mental retardation, choreoathetosis and abnormal behavior. {ECO:0000269 PubMed:17236142}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSD17B10

Genetic Association Database (GAD)
HSD17B10
Human Genome Epidemiology (HuGE) Navigator
HSD17B10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD17B10
genes like me logo Genes that share disorders with HSD17B10: view

No data available for Genatlas for HSD17B10 Gene

Publications for HSD17B10 Gene

  1. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. (PMID: 17236142) Lenski C. … Ramser J. (Am. J. Hum. Genet. 2007) 2 3 4 23 67
  2. Comparative evolutionary genomics of the HADH2 gene encoding Abeta-binding alcohol dehydrogenase/17beta-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10). (PMID: 16899120) Marques A.T. … Ramos M.J. (BMC Genomics 2006) 2 3 23
  3. An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease. (PMID: 9338779) Yan S.D. … Stern D. (Nature 1997) 2 3 23
  4. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. (PMID: 20077426) Rauschenberger K. … Zschocke J. (EMBO Mol Med 2010) 3 23
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3

Products for HSD17B10 Gene

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