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FLASH GENE

Symbol

DHTKD1

contributors: mct - updated : 15-06-2011

HGNC name	dehydrogenase E1 and transketolase domain containing 1
HGNC id	23537

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AAOA 2-aminoadipic and 2-oxoadipic aciduria CMT2Q Charcot-Marie-Tooth disease, axonal, type 2Q
Location	10p14      Physical location : 12.110.933 - 12.165.223
Synonym symbol(s)	MGC3090, KIAA1630, DKFZP762M115
EC.number	1.2.4.2

DNA

TYPE	functioning gene
STRUCTURE	54.30 kb     17 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018706 17 - 5202 - 919 - 2008 18004749

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     predominantly Reproductive female system uterus cervix   moderately   female system breast mammary gland   highly Urinary kidney       moderately

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Dhtkd1

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	oxidoreductase activity
	acting on the aldehyde or oxo group of donors, disulfide as acceptor
	mediating the last unresolved step in the L-lysine-degradation pathway
	important role for DHTKD1 in mitochondrial energy production and neurological development
	functions as a 2-oxoglutarate-dehydrogenase E1 component and plays an important role in energy production in mitochondria through the tricarboxylic-acid cycle
	essential role for DHTKD1 in normal mitochondrial function and energy production

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

glycolysis

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AAOA , CMT2Q

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS