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FLASH GENE
Symbol HSD17B10 contributors: mct/npt - updated : 31-05-2016
HGNC name hydroxysteroid (17-beta) dehydrogenase 10
HGNC id 4800
Corresponding disease
CAMR choreoathetosis, abnormal behavior, and mental retardation
MHBD hydroxyacyl-CoA dehydrogenase, type II, deficiency
MRX17 mental retardation mild, 17
MRX31 mental retardation, 31
Location Xp11.22      Physical location : 53.458.205 - 53.461.323
Synonym name
  • 17 beta-hyroxysteroid dehydrogenase type 10
  • ER-associated amyloid beta -binding protein
  • amyloid beta -binding alcohol dehydrogenase
  • hydroxyacyl-Coenzyme A dehydrogenase, type II
  • short chain dehydrogenase/reductase family 5C, member 1
  • 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
  • mitochondrial ribonuclease P protein 2
  • Abeta binding alcohol dehydrogenase
  • Synonym symbol(s) ERAB, 17b-HSD10, SCHAD, HCD2, ABAD, 17b-HSD10, HADH2, MHBD, SDR5C1, MRPP2, XH98G2, HSD10
    EC.number 1.1.1.178, 1.1.1.35
    DNA
    TYPE functioning gene
    STRUCTURE 3.12 kb     6 Exon(s)
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • hypomethylation of the CpG island provides additional evidence for the variable escape of the HSD17B10 gene from X-chromosome inactivation which could influence the range of severity of HSD17B10 deficiency, an inherited error in isoleucine metabolism, in heterozygous females
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 963 26 261 - Yang (2007)
    6 - 936 - 252 - Yang (2007)
    uses an alternate in-frame splice site in the 3' coding region
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbraindiencephalonhypothalamus highly
    Reproductivemale systemprostate  highly
     male systemtestis  highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal mitochondrial targeting sequence
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Hsd17b10
    Homologene
    FAMILY
  • short chain dehydrogenase/reductase (SDR) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text hippocampal synaptic mitochondria
    basic FUNCTION
  • mitochondrial multifunctional enzyme, which catalyzes the oxidation of steroid modulators of GABA type A (GABAA) receptors, steroid hormones, and xenobiotics (Yang 2009)
  • acting on a number of substrates including steroid, cholic acids, fatty acids preferentially short chain methyl-branched acyl-CoAs
  • may be contributing to the neuronal dysfunction associated with Alzheimer disease
  • involved in cognitive functions, through metabolism of isoleucine and neuroactive steroid
  • mitochondrial enzyme important in isoleucine and branched-chain fatty-acid degradation
  • is an essential component of mitochondrial Ribonuclease P (RNase P), an enzyme required for mitochondrial tRNA processing, but little is known about the role of HSD10 in RNase P function
  • homotetrameric mitochondrial multifunctional enzyme catalyzes the oxidation of neuroactive steroids and the degradation of isoleucine
  • play a protective role in cells undergoing stress
  • TRMT10C along with HSD17B10 and KIAA0391, form the mitochondrial ribonuclease P (mt-RNase P) complex that cleaves the 5prime ends of mt-tRNAs from polycistronic precursor transcripts
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • RNase P consists of three different proteins TRMT10C, MRPP2 (HSD17B10) and MRPP3 (KIAA0391), each of which is essential for RNase P function
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is important for the maintenance of normal TRMT10C protein levels
  • TRMT10C and HSD17B10 both deliver the pre-tRNA substrate and activate KIAA0391 through an induced-fit process
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MHBD , CAMR , MRX17 , MRX31
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in elevated astrocytes in Alzheimer disease
    constitutional   amplification    
    duplicated in mental retardation
    constitutional       loss of function
    causes impaired mitochondrial precursor transcript processing which may explain mitochondrial dysfunction observed in HSD17B10 disease
    tumoral     --over  
    accelerates pheochromocytoma cell growth, enhances cell respiration, and increases cellular resistance to cell death induction
    Susceptibility to Alzheimer disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    blockade of HSD17B10 may halt and/or prevent cancer growth, thus providing a promising novel target for cancer patients as a therapeutic option
    neurologyneurodegenerativealzheimer
    targeting mitochondrial ABAD may represent a novel therapeutic strategy against Alzheimer disease
    ANIMAL & CELL MODELS