2. Gene
  3. DHTKD1 - dehydrogenase E1 and transketolase domain containing 1 Gene

DHTKD1 - dehydrogenase E1 and transketolase domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1

Gene ID: 55526 | Gene type: protein coding

About DHTKD1

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:12,068,954-12,123,221 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in liver (RPKM 30.3), kidney (RPKM 21.7) and 24 other tissues.

Summary

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]

DHTKD1 Products(1)

mRNA Protein Name
NM_018706.7 NP_061176.4 2-oxoadipate dehydrogenase complex component E1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 2-oxoadipate dehydrogenase activity IDA
IDA: Inferred from direct assay
29191460 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Reference Source
involved in generation of precursor metabolites and energy IMP
IMP: Inferred from mutant phenotype
23141294 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
23141294 GOA
part of oxoadipate dehydrogenase complex IDA
IDA: Inferred from direct assay
29191460 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHTKD1 Protein Structure

E1_dh

E1_dh: Dehydrogenase E1 component (239 - 500)

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (568 - 772)

  • 0
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  • 800
  • 919 a.a.
Protein Preferred Names Protein Names

2-oxoadipate dehydrogenase complex component E1

2-oxoadipate dehydrogenase, mitochondrial

Related Diseases

Diseases Alias
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

2-Aminoadipic 2-Oxoadipic Aciduria

Amoxad

AAKAD

2-Ketoadipic Aciduria

Alpha-Aminoadipic Aciduria

Amino Adipic Aciduria

Aciduria, 2-Aminoadipic 2-Oxoadipic
Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q

CMT2Q

Charcot-Marie-Tooth Neuropathy, Type 2q

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Neuropathy Type 2q

Charcot-Marie-Tooth Disease 2q

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q

Charcot-Marie-Tooth Neuropathy Axonal Type 2q
Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii
Hyperlysinemia, Type I

Hyperlysinemia

Lysine Intolerance

Alpha-Aminoadipic Semialdehyde Synthase Deficiency

Lysine:Alpha-Ketoglutarate Reductase Deficiency

L-Lysine:Nad-Oxido-Reductase Deficiency

Lysine Alpha-Ketoglutarate Reductase Deficiency

Alpha-Aminoadipic Semialdehyde Deficiency Disease

Lysine Alpha-Ketoglutarate Reductase Deficiency Disease

Saccharopinuria

Hyperlysinemia Type I

Hyperlysinemias

L-Lysine Nad-Oxido-Reductase Deficiency

Familial Hyperlysinemia

Saccharopine Dehydrogenase Deficiency Disease

Hyperlysinemia, 1

HYPLYS1

Saccharopine Dehydrogenase Deficiency
Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03747 DHTKD1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DHTKD1 RGD RGD:1308092
Mus musculus DHTKD1 MGD MGI:2445096
Felis catus DHTKD1 VGNC VGNC:83866
Bos taurus DHTKD1 VGNC VGNC:28047
Canis familiaris DHTKD1 VGNC VGNC:39938