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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMLHE Gene

protein-coding   GIFtS: 59
GCID: GC0XM154719

Trimethyllysine Hydroxylase, Epsilon

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Trimethyllysine Hydroxylase, Epsilon1 2     2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 21
TMLH2 3 5     Butyrobetaine (Gamma)1
Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase2 3     AUTSX62
Epsilon-Trimethyllysine Hydroxylase2 3     TMLHED2
TMLD2 3     XAP1302
TML Hydroxylase2 3     Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine
Hydroxylase) 22
TML-Alpha-Ketoglutarate Dioxygenase2 3     Trimethyllysine Dioxygenase, Mitochondrial2
EC 1.14.11.83 8     TML Dioxygenase3
BBOX22 5     

External Ids:    HGNC: 183081   Entrez Gene: 552172   Ensembl: ENSG000001859737   OMIM: 3007775   UniProtKB: Q9NVH63   

Export aliases for TMLHE gene to outside databases

Previous GC identifers: GC0XM148537 GC0XM150855 GC0XP152095 GC0XM153151 GC0XM154283 GC0XM154372 GC0XP143121


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TMLHE Gene:
This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis
pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner
mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of
this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.(provided by
RefSeq, May 2010)

GeneCards Summary for TMLHE Gene: 
TMLHE (trimethyllysine hydroxylase, epsilon) is a protein-coding gene. Diseases associated with TMLHE include epsilon-trimethyllysine hydroxylase deficiency, and pervasive developmental disorder, and among its related super-pathways are Carnitine synthesis and Metabolic pathways. GO annotations related to this gene include L-ascorbic acid binding and iron ion binding. An important paralog of this gene is BBOX1.

UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
Function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)

Gene Wiki entry for TMLHE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  NC_018934.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMLHE
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMLHE promoter sequence
   Search SABiosciences Chromatin IP Primers for TMLHE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMLHE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

TMLHE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMLHE gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM154719:  view genomic region     (about GC identifiers)

Start:
154,718,672 bp from pter      End:
154,899,605 bp from pter
Size:
180,934 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6 (See protein sequence)
Recommended Name: Trimethyllysine dioxygenase, mitochondrial precursor  
Size: 421 amino acids; 49518 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Cofactor: Ascorbate
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion matrix
Secondary accessions: A8K6M9 B4E3R3 Q5TZB5 Q6IA90 Q8TBT0
Alternative promoter usage, Alternative splicing: 8 isoforms:  Q9NVH6-1   Q9NVH6-3   Q9NVH6-4   Q9NVH6-2   Q9NVH6-5   Q9NVH6-6   Q9NVH6-7   Q9NVH6-8   
(Produced by alternative promoter usage. Although the expression of the alternative 5' exon has been detected by PCR in heart and skeletal muscle, the identification of the alternative promoter leading to this form remains elusive (PubMed:17408883))

Explore the universe of human proteins at neXtProt for TMLHE: NX_Q9NVH6

Explore proteomics data for TMLHE at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NVH6

  • 4/7 DME Specific Peptides for TMLHE (Q9NVH6) (see all 7)
     CHNHMIG  HTDTTYF  QRSLDTASVDL  LFIDNWRVLHGRE 

    TMLHE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMLHE Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001171726.1  NP_060666.1  

    ENSEMBL proteins: 
     ENSP00000335261   ENSP00000358447  
    Reactome Protein details: Q9NVH6
    Human Recombinant Protein Products for TMLHE: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA15754339
    GO:0005759mitochondrial matrix TAS--

    TMLHE for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR010376 DUF971
     IPR003819 Taurine_dOase
     IPR012776 Trimethyllysine_dOase

    Graphical View of Domain Structure for InterPro Entry Q9NVH6

    ProtoNet protein and cluster: Q9NVH6

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Similarity: Belongs to the gamma-BBH/TMLD family


    TMLHE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMLH_HUMAN, Q9NVH6
    Function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)
    Catalytic activity: N(6),N(6),N(6)-trimethyl-L-lysine + 2-oxoglutarate + O(2) =
    3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine + succinate + CO(2)

         Enzyme Number (IUBMB): EC 1.14.11.81 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--
    GO:0031418L-ascorbic acid binding IEA--
    GO:0050353trimethyllysine dioxygenase activity TAS--
         
    TMLHE for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TMLHE:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TMLHE About                                                                                                See pathways by source

    SuperPathContained pathways About
    1L-carnitine biosynthesis
    L-carnitine biosynthesis0.75
    Carnitine synthesis0.75
    2Metabolism
    Metabolism0.40
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    4Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TMLHE
        L-carnitine biosynthesis

    3        Reactome Pathways for TMLHE
        Carnitine synthesis
    Metabolism
    Metabolism of amino acids and derivatives


    1         Kegg Pathway  (Kegg details for TMLHE):
        Lysine degradation

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis


    TMLHE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMLHE

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/11 Interacting proteins for TMLHE (Q9NVH63 ENSP000003352614) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED10Q9BTT43, ENSP000002557644I2D: score=1 STRING: ENSP00000255764
    RBL2Q089993, ENSP000002621334I2D: score=1 STRING: ENSP00000262133
    MED29Q9NX703, ENSP000003143434I2D: score=1 STRING: ENSP00000314343
    MED9Q9NWA03, ENSP000002687114I2D: score=1 STRING: ENSP00000268711
    CAPZA1P529073I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0045329carnitine biosynthetic process TAS--
    GO:0051354negative regulation of oxidoreductase activity IDA15754339
    GO:0055114oxidation-reduction process ----

    TMLHE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMLHE (TMLH)

    10/14 HMDB Compounds for TMLHE (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    3-Hydroxy-N6,N6,N6-trimethyl-L-lysine3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine (see all 4)----
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    IronArmco iron (see all 19)7439-89-6--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    N6,N6,N6-Trimethyl-L-lysine(S)-2-amino-6-(trimethylammonio)hexanoate (see all 9)19253-88-4--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--

    2 DrugBank Compounds for TMLHE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about TMLHE / TMLH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMLHE gene (2 alternative transcripts): 
    NM_001184797.1  NM_018196.3  

    Unigene Cluster for TMLHE:

    Trimethyllysine hydroxylase, epsilon
    Hs.133321  [show with all ESTs]
    Unigene Representative Sequence: NM_018196
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334398(uc004fnn.3) ENST00000449645 ENST00000369439(uc004fnp.4)
    ENST00000487422 ENST00000474677 ENST00000461075
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    Additional mRNA sequence: 

    AF373407.1 AK001589.1 AK291694.1 AK304830.1 AK310667.1 BC009673.1 BC025269.1 CR457265.1 

    11 DOTS entries:

    DT.455117  DT.100013416  DT.97841460  DT.86856133  DT.92425984  DT.92425992  DT.441498  DT.92425991 
    DT.100690946  DT.100712650  DT.438218 

    24/131 AceView cDNA sequences (see all 131):

    AI803989 AF373407 AA937049 CR610079 N67550 NM_018196 AA011424 CA395696 
    BX111000 BG943881 CR610946 BC009673 BU675743 BX103123 BM710266 AK001589 
    CR457265 BC025269 BG390934 AU130661 AI923529 AA151697 CR595358 BQ049159 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMLHE expression in normal human tissues (normalized intensities)      TMLHE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMLHE Expression
    About this image


    TMLHE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   
     
     Intestine (Gastrointestinal Tract)
             ileum   
     
     Adipose (Muscoskeletal System)
             white adipose tissue   

    See TMLHE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMLHE

    SOURCE GeneReport for Unigene cluster: Hs.133321

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
    Tissue specificity: All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is
    restricted to heart and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Array including TMLHE: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMLHE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for TMLHE gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmlhe1 , 5 trimethyllysine hydroxylase, epsilon1, 5 87.41(n)1
    88.12(a)1
      X5
    1922891  NM_138758.11  NP_620097.11 
    chicken
    (Gallus gallus)
    Aves TMLHE1 trimethyllysine hydroxylase, epsilon 74.88(n)
    82.06(a)
      422296  NM_001012575.1  NP_001012593.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMLHE6
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL343202.1(2074077-2085230)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684972 hypothetical protein MGC68497 75.01(n)    BC063722.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5552711 trimethyllysine dioxygenase, mitochondrial-like 67.37(n)
    73.23(a)
      555271  XM_677739.2  XP_682831.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43351 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase3
    CG43351
    35(a)3
    46.76(n)1
    36.47(a)1
      92E73
    424211  NM_142629.31  NP_650886.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gbh-21 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase3
    Protein GBH-21
    34(a)3
    47.11(n)1
    36.99(a)1
      II(8485610-8487168)3
    1743581  NM_063392.21  NP_495793.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM17(YHL021C)4 Putative protein of unknown function; the authentic, more   --   8(65859-64462) 856365  NP_011842.1 


    ENSEMBL Gene Tree for TMLHE (if available)
    TreeFam Gene Tree for TMLHE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMLHE gene
    BBOX12  
    1 SIMAP similar gene for TMLHE using alignment to 1 protein entry:     TMLH_HUMAN:
    BBOX1

    TMLHE for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TMLHE
    PGOHUM00000242100 PGOHUM00000242101


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1470 SNPs in TMLHE are shown (see all 1470)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876200091,2
    C--154728894(+) GGGAAA/GGTTAG 4 -- int10--------
    rs1998146081,2
    C--154729833(+) GAAACC/TACCAT 4 -- int10--------
    rs2005294091,2
    --154732055(+) ACGCG-/CACACAC 4 -- int10--------
    rs1921105581,2
    --154734601(+) ATAAGG/TGTTTG 4 -- int10--------
    rs1382138731,2
    --154734642(+) TCAGTA/GAGTGT 4 -- int10--------
    rs1437022101,2
    --154734644(+) AGTGAA/GTGTAT 4 -- int10--------
    rs1850929591,2
    C--154734658(+) TAATAG/TTTTAA 4 -- int10--------
    rs2016576321,2
    --154734839(+) GGTGA-/TGTAAAG 4 -- int10--------
    rs2000093241,2
    --154734840(+) GTGAT-/GCAAAGC 4 -- int10--------
    rs1876917741,2
    --154734891(+) CTATGA/GCTTTT 4 -- int10--------

    HapMap Linkage Disequilibrium report for TMLHE (154718672 - 154899605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for TMLHE (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2670601CNV Deletion23128226
    nsv820472CNV Deletion20802225
    esv2659146CNV Deletion23128226
    esv2665236CNV Deletion23128226
    esv2675898CNV Deletion23128226
    esv2669858CNV Deletion23128226
    esv2671097CNV Deletion23128226
    esv1007887CNV Deletion20482838
    esv2660855CNV Deletion23128226
    esv274593CNV Insertion20981092


    Human Gene Mutation Database (HGMD): TMLHE

    Locus Specific Mutation Databases (LSDB): TMLHE
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TMLHE
    DNA2.0 Custom Variant and Variant Library Synthesis for TMLHE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300777    OMIM disorders: --

    UniProtKB/Swiss-Prot: TMLH_HUMAN, Q9NVH6
  • Epsilon-trimethyllysine hydroxylase deficiency (TMLHED) [MIM:300872]: An inborn error of carnitine
    biosynthesis associated with an increased risk for developing autistic behavior. Autism is a complex
    multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction
    and communication, restricted and stereotyped patterns of interests and activities, and the presence of
    developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental
    retardation. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for TMLHE:    About MalaCards
    epsilon-trimethyllysine hydroxylase deficiency    pervasive developmental disorder    mental retardation


    TMLHE for disorders           About GeneDecksing


    Export disorders for TMLHE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMLHE gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with TMLHE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular and biochemical characterization of rat epsilon-N- trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis. (PubMed id 11431483)1, 2, 3 Vaz F.M.... Wanders R.J.A. (2001)
    2. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. (PubMed id 15754339)1, 2, 9 Monfregola J.... Ursini M.V. (2005)
    3. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. (PubMed id 21865298)1, 2 Celestino-Soper P.B....Beaudet A.L. (2011)
    4. Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. (PubMed id 17408883)1, 2 Monfregola J....Ursini M.V. (2007)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. (PubMed id 8908511)1, 3 Rogner U.C....Poustka A. (1996)
    9. Analysis of the chromosome X exome in patients with au tism spectrum disorders identified novel candidate genes, including TMLHE. (PubMed id 23092983)1 Nava C....Depienne C. (2012)
    10. A common X-linked inborn error of carnitine biosynthes is may be a risk factor for nondysmorphic autism. (PubMed id 22566635)1 Celestino-Soper P.B....Beaudet A.L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55217 HGNC: 18308 AceView: TMLHE Ensembl:ENSG00000185973 euGenes: HUgn55217
    ECgene: TMLHE Kegg: 55217 H-InvDB: TMLHE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMLHE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMLHE gene:
    Search GeneIP for patents involving TMLHE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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