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 splic... See more...

Aliases for TMLHE Gene

Aliases for TMLHE Gene

  • Trimethyllysine Hydroxylase, Epsilon 2 3 5
  • TMLH 2 3 4
  • Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 2 2 3
  • Epsilon-Trimethyllysine 2-Oxoglutarate Dioxygenase 3 4
  • Trimethyllysine Dioxygenase, Mitochondrial 3 4
  • TML-Alpha-Ketoglutarate Dioxygenase 3 4
  • Epsilon-Trimethyllysine Hydroxylase 3 4
  • TML Hydroxylase 3 4
  • EC 1.14.11.8 4 50
  • XAP130 2 3
  • BBOX2 2 3
  • TMLD 3 4
  • TML Dioxygenase 4
  • FLJ10727 2
  • AUTSX6 3
  • TMLHED 3
  • TMLHE 5

External Ids for TMLHE Gene

Previous GeneCards Identifiers for TMLHE Gene

  • GC0XM148537
  • GC0XM150855
  • GC0XP152095
  • GC0XM153151
  • GC0XM154283
  • GC0XM154372
  • GC0XM154719
  • GC0XP143121

Summaries for TMLHE Gene

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 Autism X-Linked 6 and Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag. Among its related pathways are Lysine degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and L-ascorbic acid binding. An important paralog of this gene is BBOX1.

UniProtKB/Swiss-Prot Summary for TMLHE Gene

  • Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).

Gene Wiki entry for TMLHE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMLHE Gene

Genomics for TMLHE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMLHE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ155611 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 296.4 +106.8 106798 3 ZNF600 POLR2A ZBTB10 SMAD5 TBP ZNF341 MNT KLF7 ZNF148 KMT2B TMLHE SPRY3 lnc-H2AFB3-2 piR-61514-227 lnc-TMLHE-2 TMLHE-AS1 H2AB3
GH0XJ155718 Promoter 0.4 Ensembl 250.7 +0.2 197 0.2 GLIS1 TMLHE piR-44450 SPRY3
GH0XJ155332 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 50 +385.6 385597 4.6 IKZF1 NCOR1 MYC NFIC BHLHE40 TBP MNT ARNT TAF9B NBN CLIC2 TMLHE piR-31292-236 ENSG00000224216 RAB39B
GH0XJ155263 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 37.6 +455.3 455297 2.8 ZNF600 JUND ATF2 ZNF10 POLR2A ZIC2 ZEB1 ZNF217 CTBP1 SP2 RAB39B TMLHE HSALNG0140905 VBP1
GH0XJ155433 Enhancer 0.8 Ensembl 48.6 +284.0 283998 3 NCOR1 IKZF1 NFIC TAF9B TAL1 ZNF316 NFE2 MYNN PRDM10 STAT5A TMLHE F8A1 FAM3A piR-38959-035 F8A3 MIR1184-3 F8A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMLHE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMLHE

Genomic Locations for TMLHE Gene

Latest Assembly
chrX:155,489,011-155,719,098
(GRCh38/hg38)
Size:
230,088 bases
Orientation:
Minus strand

Previous Assembly
chrX:154,718,672-154,842,613
(GRCh37/hg19 by Entrez Gene)
Size:
123,942 bases
Orientation:
Minus strand

chrX:154,719,776-154,899,605
(GRCh37/hg19 by Ensembl)
Size:
179,830 bases
Orientation:
Minus strand

Genomic View for TMLHE Gene

Genes around TMLHE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TMLHE Gene

Proteins for TMLHE Gene

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

    Protein Symbol:
    Q9NVH6-TMLH_HUMAN
    Recommended name:
    Trimethyllysine dioxygenase, mitochondrial
    Protein Accession:
    Q9NVH6
    Secondary Accessions:
    • A8K6M9
    • B4E3R3
    • Q5TZB5
    • Q6IA90
    • Q8TBT0

    Protein attributes for TMLHE Gene

    Size:
    421 amino acids
    Molecular mass:
    49518 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • [Isoform 2]: Produced by alternative splicing. Lacks enzymatic activity.
    • [Isoform 3]: Produced by alternative splicing. Lacks enzymatic activity.
    • [Isoform 4]: Produced by alternative splicing. Lacks enzymatic activity.
    • [Isoform 5]: Produced by alternative splicing. Lacks enzymatic activity.
    • [Isoform 6]: Produced by alternative splicing. Lacks the mitochondrial transit signal.
    • [Isoform 7]: Produced by alternative splicing.
    • [Isoform 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).

    Alternative splice isoforms for TMLHE Gene

neXtProt entry for TMLHE Gene

Selected DME Specific Peptides for TMLHE Gene

Q9NVH6:
  • VWLRDHCRSASCYN
  • HTDTTYF
  • FLQNFLLYGIAFVENV
  • LFIDNWRVLHGRE
  • ELYLIRYNNYDRAVINTVPYDVV
  • QRSLDTASVDL
  • CHNHMIG

Post-translational modifications for TMLHE Gene

  • Ubiquitination at Lys135
  • Modification sites at PhosphoSitePlus

Other Protein References for TMLHE Gene

Domains & Families for TMLHE Gene

Gene Families for TMLHE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TMLHE Gene

GenScript: Design optimal peptide antigens:
  • TML-alpha-ketoglutarate dioxygenase (TMLH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVH6

UniProtKB/Swiss-Prot:

TMLH_HUMAN :
  • Belongs to the gamma-BBH/TMLD family.
Family:
  • Belongs to the gamma-BBH/TMLD family.
genes like me logo Genes that share domains with TMLHE: view

Function for TMLHE Gene

Molecular function for TMLHE Gene

UniProtKB/Swiss-Prot Function:
Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysine + O2 = (3S)-3-hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine + CO2 + succinate; Xref=Rhea:RHEA:14181, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:58100, ChEBI:CHEBI:141499; EC=1.14.11.8; Evidence={ECO:0000269|PubMed:27965989, ECO:0000269|PubMed:28045275};.

Enzyme Numbers (IUBMB) for TMLHE Gene

Phenotypes From GWAS Catalog for TMLHE Gene

Gene Ontology (GO) - Molecular Function for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0050353 trimethyllysine dioxygenase activity IMP 23092983
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with TMLHE: view
genes like me logo Genes that share phenotypes with TMLHE: view

Human Phenotype Ontology for TMLHE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for TMLHE Gene

miRTarBase miRNAs that target TMLHE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMLHE

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

Localization for TMLHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMLHE Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMLHE gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with TMLHE: view

Pathways & Interactions for TMLHE Gene

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

Pathways by source for TMLHE Gene

UniProtKB/Swiss-Prot Q9NVH6-TMLH_HUMAN

  • Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis.

Gene Ontology (GO) - Biological Process for TMLHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045329 carnitine biosynthetic process TAS --
GO:0051354 negative regulation of oxidoreductase activity IDA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TMLHE: view

No data available for SIGNOR curated interactions for TMLHE Gene

Drugs & Compounds for TMLHE Gene

(12) Drugs for TMLHE Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target, cofactor 836,836
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra 0
2-Ketobutyric acid Experimental Pharma 0

(3) Additional Compounds for TMLHE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Hydroxy-N6,N6,N6-trimethyl-L-lysine
  • 3-Hydroxy-N(6),N(6),N(6)-trimethyl-L-lysine
  • 3-Hydroxy-N(6),N(6),N(6)-trimethyllysine
  • 3-Hydroxy-N6,N6,N6-trimethyl-L-lysin-N6-ium
N1-acetylspermine
  • N'-acetylspermine
  • N'-monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • 1,7-Diamino-4-azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8

(1) ApexBio Compounds for TMLHE Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with TMLHE: view

Drug products for research

Transcripts for TMLHE Gene

mRNA/cDNA for TMLHE Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMLHE

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

No ASD Table

Relevant External Links for TMLHE Gene

GeneLoc Exon Structure for
TMLHE

Expression for TMLHE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMLHE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMLHE Gene

This gene is overexpressed in Bone (13.3), Stomach (7.1), and Salivary gland (6.7).

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



Protein tissue co-expression partners for TMLHE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMLHE

SOURCE GeneReport for Unigene cluster for TMLHE Gene:

Hs.133321

mRNA Expression by UniProt/SwissProt for TMLHE Gene:

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

Evidence on tissue expression from TISSUES for TMLHE Gene

  • Pancreas(4.1)
  • Nervous system(3.8)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMLHE Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with TMLHE: view

No data available for mRNA differential expression in normal tissues for TMLHE Gene

Orthologs for TMLHE Gene

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

Orthologs for TMLHE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMLHE 29 30
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMLHE 29 30
  • 93.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMLHE 29 30
  • 92.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmlhe 29 16 30
  • 87.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmlhe 29
  • 85.11 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TMLHE 30
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMLHE 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMLHE 29 30
  • 74.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMLHE 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmlhe 29
  • 66.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68497 29
Zebrafish
(Danio rerio)
Actinopterygii tmlhe 29 30
  • 66.41 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9575 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005447 29
  • 48.1 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4335 29 30 31
  • 46.75 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea gbh-2 29 30 31
  • 47.71 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10945g 29
  • 46.63 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL035W 29
  • 45.05 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM17 30 32
  • 17 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03802 29
  • 47.09 (n)
Species where no ortholog for TMLHE was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 TMLHE Gene

ENSEMBL:
Gene Tree for TMLHE (if available)
TreeFam:
Gene Tree for TMLHE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMLHE: view image
Alliance of Genome Resources:
Additional Orthologs for TMLHE

Paralogs for TMLHE Gene

Paralogs for TMLHE Gene

(1) SIMAP similar genes for TMLHE Gene using alignment to 1 proteins:

  • TMLH_HUMAN

Pseudogenes.org Pseudogenes for TMLHE Gene

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

Variants for TMLHE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMLHE Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1012899 Likely Benign: not provided 155,524,483(-) G/A
NM_018196.4(TMLHE):c.331C>T (p.Leu111=)
SYNONYMOUS
928841 Uncertain Significance: not specified 155,545,164(-) G/A
NM_018196.4(TMLHE):c.113C>T (p.Ala38Val)
MISSENSE
982862 Uncertain Significance: Autism, susceptibility to, X-linked 6 155,524,536(-) C/T
NM_018196.4(TMLHE):c.278G>A (p.Arg93His)
MISSENSE
rs140048282 Likely Benign: not specified 155,511,727(-) G/T
NM_018196.4(TMLHE):c.704C>A (p.Thr235Asn)
MISSENSE
rs1445385878 Likely Benign: not provided 155,511,762(-) G/A
NM_018196.4(TMLHE):c.669C>T (p.Phe223=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMLHE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2549e212 CNV gain 25503493
dgv2550e212 CNV loss 25503493
dgv2551e212 CNV loss 25503493
esv1007887 CNV deletion 20482838
esv24743 CNV loss 19812545
esv24821 CNV gain+loss 19812545
esv2659146 CNV deletion 23128226
esv2660855 CNV deletion 23128226
esv2665236 CNV deletion 23128226
esv2669858 CNV deletion 23128226
esv2670601 CNV deletion 23128226
esv2671097 CNV deletion 23128226
esv2675898 CNV deletion 23128226
esv2994901 CNV deletion 24192839
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407
esv3381803 CNV insertion 20981092
esv3559517 CNV deletion 23714750
esv3559518 CNV deletion 23714750
esv3559519 CNV deletion 23714750
esv3559520 CNV deletion 23714750
esv3575071 CNV loss 25503493
esv3575074 CNV loss 25503493
esv3575076 CNV loss 25503493
esv3575078 CNV loss 25503493
esv3575079 CNV loss 25503493
esv992364 CNV loss 20482838
nsv1078693 CNV duplication 25765185
nsv1119373 CNV duplication 24896259
nsv1128558 CNV deletion 24896259
nsv1137701 CNV deletion 24896259
nsv1137702 CNV deletion 24896259
nsv1146049 CNV duplication 26484159
nsv438162 CNV loss 16468122
nsv499361 OTHER inversion 21111241
nsv499386 CNV loss 21111241
nsv510869 CNV deletion 20534489
nsv511652 CNV loss 21212237
nsv512705 CNV loss 21212237
nsv515187 CNV loss 21397061
nsv519485 CNV loss 19592680
nsv520699 CNV gain 19592680
nsv7162 CNV deletion 18451855
nsv7163 CNV insertion 18451855
nsv7470 OTHER inversion 18451855
nsv818043 CNV gain 17921354
nsv820472 CNV deletion 20802225
nsv829418 CNV loss 20364138
nsv829420 CNV loss 20364138
nsv953711 CNV deletion 24416366

Variation tolerance for TMLHE Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMLHE Gene

Human Gene Mutation Database (HGMD)
TMLHE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMLHE
Leiden Open Variation Database (LOVD)
TMLHE

SNP Genotyping and Copy Number Assays for research

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

Disorders for TMLHE Gene

MalaCards: The human disease database

(15) MalaCards diseases for TMLHE Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
autism x-linked 6
  • autism, susceptibility to, x-linked 6
intellectual disability - hypoplastic corpus callosum - preauricular tag
  • da silva syndrome
pervasive developmental disorder
  • pervasive development disorder
autism
  • autistic disorder
branched-chain keto acid dehydrogenase kinase deficiency
  • bckdkd
- elite association - COSMIC cancer census association via MalaCards
Search TMLHE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TMLH_HUMAN
  • Autism, X-linked 6 (AUTSX6) [MIM:300872]: A form of autism, 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. AUTSX6 patients may respond favorably to carnitine supplementation. {ECO:0000269 PubMed:21865298, ECO:0000269 PubMed:23092983}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TMLHE

genes like me logo Genes that share disorders with TMLHE: view

No data available for Genatlas for TMLHE Gene

Publications for TMLHE Gene

  1. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. (PMID: 23092983) Nava C … Depienne C (Translational psychiatry 2012) 3 4 72
  2. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. (PMID: 15754339) Monfregola J … Ursini MV (Journal of cellular physiology 2005) 3 4 22
  3. Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. (PMID: 11431483) Vaz FM … Wanders RJ (The Journal of biological chemistry 2001) 2 3 4
  4. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. (PMID: 21865298) Celestino-Soper PB … Beaudet AL (Human molecular genetics 2011) 3 4
  5. Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants. (PMID: 17408883) Monfregola J … Ursini MV (Gene 2007) 3 4

Products for TMLHE Gene

Sources for TMLHE Gene