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DHTKD1 - Dehydrogenase E1 And Transketolase Domain Containing 1
Alias:
E1a
AAKAD
CMT2Q
AMOXAD
OADC-E1
OADH-E1
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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]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DHTKD1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Anatomical Category
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Mutations
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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References Literature
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