This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013] See more...

Aliases for DHTKD1 Gene

Aliases for DHTKD1 Gene

  • Dehydrogenase E1 And Transketolase Domain Containing 1 2 3 5
  • Probable 2-Oxoglutarate Dehydrogenase E1 Component DHKTD1, Mitochondrial 3 4
  • Dehydrogenase E1 And Transketolase Domain-Containing Protein 1 3 4
  • EC 1.2.4.2 4 54
  • KIAA1630 4
  • AMOXAD 3
  • CMT2Q 3

External Ids for DHTKD1 Gene

Previous GeneCards Identifiers for DHTKD1 Gene

  • GC10P012114
  • GC10P012150
  • GC10P012028
  • GC10P012110

Summaries for DHTKD1 Gene

Entrez Gene Summary for DHTKD1 Gene

  • This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

GeneCards Summary for DHTKD1 Gene

DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1) is a Protein Coding gene. Diseases associated with DHTKD1 include 2-Aminoadipic 2-Oxoadipic Aciduria and Charcot-Marie-Tooth Disease, Axonal, Type 2Q. Among its related pathways are Metabolism and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and oxoglutarate dehydrogenase (succinyl-transferring) activity. An important paralog of this gene is OGDHL.

UniProtKB/Swiss-Prot Summary for DHTKD1 Gene

  • The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).

Additional gene information for DHTKD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHTKD1 Gene

Genomics for DHTKD1 Gene

GeneHancer (GH) Regulatory Elements for DHTKD1 Gene

Promoters and enhancers for DHTKD1 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
GH10J012067 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 0.0 -33 3.4 FOXK2 E2F8 ZNF785 ZBTB40 SP1 CTCF MLX RBPJ POLR2A ATF1 DHTKD1 hsa-miR-5095-035 PROSER2-AS1
GH10J012040 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.6 -26.2 -26237 4.2 SIN3A ZNF24 SP1 ZBTB6 MLX SMARCE1 POLR2A USF2 CREB1 HCFC1 UPF2 lnc-NUDT5-3 DHTKD1 ENSG00000228302 PROSER2-AS1 USP6NL CAMK1D LOC105376416 piR-60051-007
GH10J012193 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.9 +127.2 127184 4.6 E2F8 ZBTB40 SREBF1 SIX5 ZBTB6 RBPJ POLR2A CTBP1 CREB1 HCFC1 NUDT5 CDC123 UPF2 BTBD7P1 DHTKD1 ENSG00000228302 SEC61A2 CAMK1D
GH10J012128 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 +60.6 60584 2.6 CTCF MLX POLR2A CTBP1 L3MBTL2 RAD21 ZNF121 MNT ZNF148 NKRF SEC61A2 MIR548AK DHTKD1 UPF2 NUDT5 piR-43951
GH10J012022 Enhancer 0.7 Ensembl ENCODE 11.9 -45.9 -45916 2.8 ZNF24 JUND RXRA PRDM10 ZEB2 HDGF JUNB BATF IRF4 ATF2 piR-60051-007 UPF2 DHTKD1 SEC61A2 lnc-NUDT5-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHTKD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DHTKD1 gene promoter:
  • AP-2gamma
  • CBF(2)
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-Y
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DHTKD1 Gene

Genomic Locations for DHTKD1 Gene
chr10:12,068,917-12,123,228
(GRCh38/hg38)
Size:
54,312 bases
Orientation:
Plus strand
chr10:12,110,934-12,165,224
(GRCh37/hg19)
Size:
54,291 bases
Orientation:
Plus strand

Genomic View for DHTKD1 Gene

Genes around DHTKD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHTKD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHTKD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHTKD1 Gene

Proteins for DHTKD1 Gene

  • Protein details for DHTKD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HY7-DHTK1_HUMAN
    Recommended name:
    Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
    Protein Accession:
    Q96HY7
    Secondary Accessions:
    • Q68CU5
    • Q9BUM8
    • Q9HCE2

    Protein attributes for DHTKD1 Gene

    Size:
    919 amino acids
    Molecular mass:
    103077 Da
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13456.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13456.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. C-terminal exons are derived from the neighboring gene.; Evidence={ECO:0000305};

neXtProt entry for DHTKD1 Gene

Selected DME Specific Peptides for DHTKD1 Gene

Q96HY7:
  • RLSGQDV
  • LPHGYDG
  • CLQVHGDAS
  • ETFTLSNLPH
  • HLIVNNQLGYTTPAERGRSSLY
  • WEAQFGDFFNGAQII
  • EEGVDGDTVNM
  • DHGLARLV
  • VLGFEYG
  • GKTRGRQQ
  • TERGVYGYRP
  • QEEPQNMG
  • TVKRYGGEGAESM
  • FHLLRRQ
  • NPSHLEAVNP
  • QKGFLEVSNS
  • NPVAVGKTR
  • ERFLQMC

Post-translational modifications for DHTKD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DHTKD1 Gene

Domains & Families for DHTKD1 Gene

Gene Families for DHTKD1 Gene

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

Protein Domains for DHTKD1 Gene

Suggested Antigen Peptide Sequences for DHTKD1 Gene

GenScript: Design optimal peptide antigens:
  • Dehydrogenase E1 and transketolase domain-containing protein 1 (DHTK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96HY7

UniProtKB/Swiss-Prot:

DHTK1_HUMAN :
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
Family:
  • Belongs to the alpha-ketoglutarate dehydrogenase family.
genes like me logo Genes that share domains with DHTKD1: view

Function for DHTKD1 Gene

Molecular function for DHTKD1 Gene

UniProtKB/Swiss-Prot Function:
The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) = [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-(S(8)-succinyldihydrolipoyl)-L-lysine + CO2; Xref=Rhea:RHEA:12188, Rhea:RHEA-COMP:10483, Rhea:RHEA-COMP:10484, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:83099, ChEBI:CHEBI:83120; EC=1.2.4.2;.

Enzyme Numbers (IUBMB) for DHTKD1 Gene

Phenotypes From GWAS Catalog for DHTKD1 Gene

Gene Ontology (GO) - Molecular Function for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004591 oxoglutarate dehydrogenase (succinyl-transferring) activity IEA,IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor IEA --
GO:0030976 thiamine pyrophosphate binding IEA --
genes like me logo Genes that share ontologies with DHTKD1: view
genes like me logo Genes that share phenotypes with DHTKD1: view

Human Phenotype Ontology for DHTKD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHTKD1 Gene

MGI Knock Outs for DHTKD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DHTKD1

CRISPR Products

miRNA for DHTKD1 Gene

miRTarBase miRNAs that target DHTKD1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for DHTKD1 Gene

Localization for DHTKD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHTKD1 Gene

Mitochondrion.

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 DHTKD1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 23141294
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IBA 21873635
GO:0045252 oxoglutarate dehydrogenase complex IBA 21873635
genes like me logo Genes that share ontologies with DHTKD1: view

Pathways & Interactions for DHTKD1 Gene

genes like me logo Genes that share pathways with DHTKD1: view

Pathways by source for DHTKD1 Gene

Gene Ontology (GO) - Biological Process for DHTKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006091 generation of precursor metabolites and energy IMP 23141294
GO:0006096 glycolytic process IEA --
GO:0006099 tricarboxylic acid cycle IEA,IBA 21873635
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DHTKD1: view

No data available for SIGNOR curated interactions for DHTKD1 Gene

Drugs & Compounds for DHTKD1 Gene

(2) Drugs for DHTKD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxogluric acid Experimental, Investigational Nutra 0
Thiamine Pyrophosphate Pharma 3
genes like me logo Genes that share compounds with DHTKD1: view

Transcripts for DHTKD1 Gene

mRNA/cDNA for DHTKD1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHTKD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2:
SP3:
SP4: - - - - -
SP5: -
SP6:
SP7: - -
SP8:

Relevant External Links for DHTKD1 Gene

GeneLoc Exon Structure for
DHTKD1
ECgene alternative splicing isoforms for
DHTKD1

Expression for DHTKD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DHTKD1 Gene

mRNA differential expression in normal tissues according to GTEx for DHTKD1 Gene

This gene is overexpressed in Liver (x7.0).

Protein differential expression in normal tissues from HIPED for DHTKD1 Gene

This gene is overexpressed in Liver (16.9), Salivary gland (9.6), Lymph node (8.4), and Liver, secretome (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHTKD1 Gene



Protein tissue co-expression partners for DHTKD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DHTKD1 Gene:

DHTKD1

SOURCE GeneReport for Unigene cluster for DHTKD1 Gene:

Hs.104980

Evidence on tissue expression from TISSUES for DHTKD1 Gene

  • Liver(4.6)
  • Kidney(4.4)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHTKD1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • skull
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with DHTKD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DHTKD1 Gene

Orthologs for DHTKD1 Gene

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

Orthologs for DHTKD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHTKD1 33 32
  • 99.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DHTKD1 33 32
  • 87.37 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHTKD1 33
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHTKD1 33 32
  • 86.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhtkd1 32
  • 85.02 (n)
oppossum
(Monodelphis domestica)
Mammalia DHTKD1 33
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhtkd1 17 33 32
  • 84.12 (n)
chicken
(Gallus gallus)
Aves DHTKD1 33 32
  • 74.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHTKD1 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhtkd1 32
  • 69.49 (n)
Str.17401 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.4843 32
zebrafish
(Danio rerio)
Actinopterygii dhtkd1 33 32
  • 67 (n)
OneToOne
Dr.13396 32
fruit fly
(Drosophila melanogaster)
Insecta CG1544 33 32
  • 54.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000551 32
  • 53.95 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK836.2 33 32
  • 53.94 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KGD1 33
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1194 33
  • 53 (a)
OneToOne
Species where no ortholog for DHTKD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DHTKD1 Gene

ENSEMBL:
Gene Tree for DHTKD1 (if available)
TreeFam:
Gene Tree for DHTKD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHTKD1: view image

Paralogs for DHTKD1 Gene

Paralogs for DHTKD1 Gene

(2) SIMAP similar genes for DHTKD1 Gene using alignment to 4 proteins:

  • DHTK1_HUMAN
  • C9JWN1_HUMAN
  • H7C149_HUMAN
  • H7C1J3_HUMAN
genes like me logo Genes that share paralogs with DHTKD1: view

Variants for DHTKD1 Gene

Sequence variations from dbSNP and Humsavar for DHTKD1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1016086446 not-provided, 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease, axonal, type 2Q 12,120,875(+) A/G coding_sequence_variant, missense_variant
rs117225135 pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, 2-aminoadipic 2-oxoadipic aciduria, not provided, 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750] 12,112,930(+) G/A coding_sequence_variant, missense_variant
rs138884194 pathogenic, 2-aminoadipic 2-oxoadipic aciduria 12,094,222(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs1554791360 likely-pathogenic, pathogenic, not provided, 2-aminoadipic 2-oxoadipic aciduria 12,084,696(+) A/AA coding_sequence_variant, frameshift
rs1564385081 pathogenic, 2-aminoadipic 2-oxoadipic aciduria 12,069,034(+) A/G initiator_codon_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DHTKD1 Gene

Variant ID Type Subtype PubMed ID
dgv120e199 CNV deletion 23128226
dgv37n21 CNV gain 19592680
dgv673n100 CNV gain 25217958
dgv674n100 CNV gain 25217958
dgv67n27 CNV gain 19166990
dgv956n54 CNV gain 21841781
esv2673758 CNV deletion 23128226
esv2733084 CNV deletion 23290073
esv2761574 CNV loss 21179565
esv3622354 CNV gain 21293372
esv3622355 CNV gain 21293372
esv3622356 CNV loss 21293372
esv3622357 CNV gain 21293372
esv3622358 CNV loss 21293372
esv3622359 CNV loss 21293372
esv3622360 CNV gain 21293372
esv3622361 CNV loss 21293372
esv3891755 CNV loss 25118596
nsv1035709 CNV gain 25217958
nsv1035894 CNV gain 25217958
nsv1046396 CNV gain 25217958
nsv470919 CNV gain 18288195
nsv818745 CNV gain 17921354
nsv831785 CNV gain 17160897

Variation tolerance for DHTKD1 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.93; 93.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHTKD1 Gene

Human Gene Mutation Database (HGMD)
DHTKD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHTKD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHTKD1 Gene

Disorders for DHTKD1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DHTKD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
2-aminoadipic 2-oxoadipic aciduria
  • amoxad
charcot-marie-tooth disease, axonal, type 2q
  • cmt2q
charcot-marie-tooth disease type 2q
  • charcot-marie-tooth disease, axonal, type 2q
tooth disease
  • tooth disorders
isovaleric acidemia
  • iva
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHTK1_HUMAN
  • Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:23141294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269 PubMed:23141293}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DHTKD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DHTKD1: view

No data available for Genatlas for DHTKD1 Gene

Publications for DHTKD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 56
  2. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (PMID: 23141293) Danhauser K … Kölker S (American journal of human genetics 2012) 3 4 56
  3. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (PMID: 23141294) Xu WY … Wang ZG (American journal of human genetics 2012) 3 4 56
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 43 56
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for DHTKD1 Gene

Sources for DHTKD1 Gene