DHTKD1

GENE INFORMATION

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Gene name

DHTKD1 (HGNC Symbol)

Synonyms

DKFZP762M115, KIAA1630, MGC3090

Description

dehydrogenase E1 and transketolase domain containing 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

10 (Chromosome progress)

Cytoband

p14

Chromosome location (bp)

12110971 - 12165224

Ensembl

ENSG00000181192 (version 73.37)

Entrez gene

55526

UniProt

Q96HY7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96HY7

Antibodypedia

DHTKD1 antibodies
 

PROTEIN VIEW

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DHTKD1-001
 
DHTKD1-003
 
DHTKD1-004
 
DHTKD1-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DHTKD1-001 ENSP00000263035
ENST00000263035
Q96HY7
Show all »
Show » Show » 919 103.1 No 0
DHTKD1-003 ENSP00000398482
ENST00000448829
214 23.7 No 0
DHTKD1-004 ENSP00000400625
ENST00000415935
H7C1J3
Show all »
Show » 161 18.3 No 0
DHTKD1-006 ENSP00000388163
ENST00000437298
C9JWN1
Show all »
Show » 308 34.3 No 0