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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:
  • MGC3090,
  • NM_018706,
  • BC002477,
  • uc001ild.6,
  • AMOXAD,
  • CMT2Q,
  • CMT2Q,
  • DKFZP762M115,
  • HGNC:23537,
  • DHTKD1,
  • KIAA1630,
  • OTTHUMG00000017677
  • identifiers:
  • 55526,
  • ENSG00000181192,
  • DHTKD1

Genome feature

Region: gene ? Length: 54312  
Location: 10:12068917-12123228 Cyto location: 10p14


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

31 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results