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DHTKD1

DHTKD1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the DHTKD1 gene?

The official name of this gene is “dehydrogenase E1 and transketolase domain containing 1.”

DHTKD1 is the gene's official symbol. The DHTKD1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the DHTKD1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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).

How are changes in the DHTKD1 gene related to health conditions?

Genetics Home Reference provides information about Charcot-Marie-Tooth disease, which is associated with changes in the DHTKD1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the DHTKD1 gene's known or predicted involvement in human disease.

Charcot-Marie-Tooth disease 2Q (CMT2Q): 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. Nerve conduction velocities are normal or slightly reduced. The disease is caused by mutations affecting the gene represented in this entry.

2-aminoadipic 2-oxoadipic aciduria (AMOXAD): 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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the DHTKD1 gene.
  • Aminoadipic aciduria
  • Charcot-Marie-Tooth disease, axonal, type 2q
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the DHTKD1 gene and its association with health conditions.
OMIM
Number
Title

Where is the DHTKD1 gene located?

Cytogenetic Location: 10p14

Molecular Location on chromosome 10: base pairs 12,068,916 to 12,123,227

The DHTKD1 gene is located on the short (p) arm of chromosome 10 at position 14.

The DHTKD1 gene is located on the short (p) arm of chromosome 10 at position 14.

More precisely, the DHTKD1 gene is located from base pair 12,068,916 to base pair 12,123,227 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DHTKD1?

You and your healthcare professional may find the following resources about DHTKD1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DHTKD1 gene or gene products?

  • AMOXAD
  • CMT2Q

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DHTKD1?

acids ; aciduria ; asymptomatic ; ataxia ; atrophy ; CoA ; degradation ; dehydrogenase ; developmental delay ; disability ; distal ; epilepsy ; gene ; hypotonia ; inherited ; lysine ; nervous system ; peripheral ; peripheral nervous system ; plasma ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 16, 2014