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Gene : DHTKD1 Homo sapiens

Name  ? dehydrogenase E1 and transketolase domain containing 1 Cytological Location  10p14
Brief Description  dehydrogenase E1 and transketolase domain containing 1
Description  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]
  • synonyms:
  • BC002477,
  • OTTHUMG00000017677,
  • DKFZP762M115,
  • HGNC:23537,
  • DHTKD1,
  • uc001ild.6,
  • NM_018706,
  • MGC3090,
  • CMT2Q,
  • CMT2Q,
  • KIAA1630
  • identifiers:
  • 55526,
  • ENSG00000181192,
  • DHTKD1

Genome feature

Region: gene ? Length: 54268  
Location: 10:12068954-12123221 Cyto location: 10p14

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



412 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results