PDK3 - pyruvate dehydrogenase kinase 3 Gene

Homo sapiens

Also known as CMTX6; GS1-358P8.4

Gene ID: 5165 | Gene type: protein coding

About PDK3

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:24,465,286-24,550,466 (from NCBI)

This gene has 6 transcripts (splice variants), 227 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.9), testis (RPKM 4.2) and 25 other tissues.

Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

PDK3 Products(2)

mRNA	Protein	Name
NM_001142386.3	NP_001135858.1	pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor
NM_005391.5	NP_005382.1	pyruvate dehydrogenase kinase, isozyme 3 isoform 2 precursor

PDK3 Protein Structure

BCDHK_Adom3

HATPase_c

0
100
200
300
406 a.a.

Protein Preferred Names

Protein Names

pyruvate dehydrogenase kinase, isozyme 3

[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

CMTX6	Charcot-Marie-Tooth Disease X-Linked Dominant 6
Cmt6x	X-Linked Charcot-Marie-Tooth Disease Type 6
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6
Charcot-Marie-Tooth Neuropathy X-Linked 6	Charcot-Marie-Tooth Disease, X-Linked, Type 6

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-121744	PS10	Inhibitor	99.01%	Unkown
HY-19564	JX06		99.88%	Unkown
HY-12492	VER-246608	Inhibitor	98.92%	Unkown
HY-N6769	Radicicol	Inhibitor	99.63%	Unkown
HY-RS10277	PDK3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDK3	VGNC	VGNC:32705
Mus musculus	PDK3	MGD	MGI:2384308
Macaca mulatta	PDK3	VGNC	VGNC:75934
Canis familiaris	PDK3	VGNC	VGNC:44382
Felis catus	PDK3	VGNC	VGNC:68776
Rattus norvegicus	PDK3	RGD	RGD:1593276
Others	PDK3	NCBI

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