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FLASH GENE

Symbol

PDHB

contributors: mct/npt - updated : 29-04-2013

HGNC name	pyruvate dehydrogenase (lipoamide) beta
HGNC id	8808

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PDHB pyruvate dehydrogenase deficiency, eta polypeptide
Location	3p14.2      Physical location : 58.413.357 - 58.419.579
Synonym symbol(s)	PHE1B, PDHE1B, DKFZp564K0164
EC.number	1.2.4.1

DNA

TYPE	functioning gene
STRUCTURE	6.22 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000925 10 - 1544 NP_000916 39.2 359 - Okajima (2008) NM_001173468 11 - 1490 NP_001166939 - 341 - -

EXPRESSION

Type	ubiquitous

constitutive of

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 Cardiovascular heart         Digestive pharynx       highly Endocrine adrenal gland       highly Nervous brain         Reproductive female system uterus cervix   highly   male system prostate       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	catalyzing the overall conversion of pyruvate to acetyl-Coa
	involved in tricarboxylic acid cycle, glucose metabolism
	involved in fatty acid oxidation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

E1 beta subunit of the complex forming an heterotetramer alpha2beta2 bound to two TPP (thiamine-pyrophosphate) one each bridging E1 alpha and E1 beta to form an active site catalyzing the irreversible decarboxylation of pyruvate to acetyl-CoA

INTERACTION

DNA

RNA

small molecule	metal binding,
	thiamine pyrophosphate

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PDHB

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS