PDHA1 - pyruvate dehydrogenase E1 subunit alpha 1 Gene

Homo sapiens

Also known as PDHA; PDHAD; PHE1A; E1alpha; PDHCE1A

Gene ID: 5160 | Gene type: protein coding

About PDHA1

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:19,343,927-19,361,718 (from NCBI)

This gene has 13 transcripts (splice variants), 311 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 64.2), fat (RPKM 35.1) 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), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 Enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

PDHA1 Products(4)

mRNA	Protein	Name
NM_000284.4	NP_000275.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor
NM_001173454.2	NP_001166925.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor
NM_001173455.2	NP_001166926.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor
NM_001173456.2	NP_001166927.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor

PDHA1 Protein Structure

E1_dh

0
100
200
300
390 a.a.

Protein Preferred Names

Protein Names

pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial

PDHE1-A type I

Recombinant PDHA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75967	PDHA1 Protein, Human (sf9)	P08559 (F30-S390)	≥95%
HY-P75968	PDHA1 Protein, Human (sf9, His-GST)	P08559 (F30-S390)	≥95%

Related Diseases

Diseases

Alias

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Coffin-Lowry Syndrome

CLS	Coffin Syndrome 1
Coffin Syndrome	Intellectual Disability With Osteocartilaginous Abnormalities
Dwarfism, Lean Spastic Type	Lean Spastic Dwarfism
Mental Retardation With Osteocartilaginous Abnormalities	Coffin Lowry Syndrome

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Pyruvate Dehydrogenase E3-Binding Protein Deficiency

Lacticacidemia Due To Pdx1 Deficiency	PDHXD
Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex	2-Oxoglutarate Complex Deficiency
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency	Diaphorase Deficiency
Dihydrolipoyl Dehydrogenase Deficiency	Glycine Cleavage System L Protein Deficiency
Lipoamide Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Component E3 Deficiency
Pyruvate Dehydrogenase Protein X Component Deficiency	Nadh Cytochrome B5 Reductase Deficiency

Hemiplegia

Infantile Hemiplegia	Postnatal Infantile Hemiplegia
Hemiplegia, Infantile

Guillain-Barre Syndrome

Guillain-Barré Syndrome	Acute Inflammatory Polyneuropathy
Gbs	Acute Inflammatory Demyelinating Polyneuropathy
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute Infective Polyneuritis
Acute Inflammatory Demyelinating Polyradiculopathy	Acute Postinfectious Polyneuropathy
Infectious Neuronitis	Post-Infectious Polyneuritis
Postinfectious Polyneuritis	Acute Autoimmune Peripheral Neuropathy
Acute Immune-Mediated Polyneuropathy	Acute Inflammatory Neuropathy
Guillain-Barré-Strohl Syndrome	Landry'S Ascending Paralysis
Landry-Guillain-Barre-Strohl Syndrome	Post-Infective Polyneuritis
Acute Infectious Polyneuritis	Fisher Syndrome
Landry-Guillain-Barre Syndrome	Guillain-Barre-Strohl Syndrome
Variant Of Guillain-Barre Syndrome	Variant Of Gbs
Aidp	Acute Idiopathic Demyelinating Polyneuropathy
Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form	Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form
Miller Fisher Syndrome

Bile Acid Synthesis Defect, Congenital, 1

CBAS1	Congenital Bile Acid Synthesis Defect 1
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Congenital Bile Acid Synthesis Defect Type 1
Basd1	Congenital Bile Acid Synthesis Defect, Type 1
3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of	3beta-Hsdh Deficiency
3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency	3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
Neonatal Progressive Intrahepatic Cholestasis	Pfic4
Progressive Familial Intrahepatic Cholestasis Type 4	Bile Acid Synthesis Defect, Congenital, Type 1
Cholestasis, Progressive Familial Intrahepatic 4

Urocanase Deficiency

Encephalopathy Due To Urocanase Deficiency	Urocanate Hydratase Deficiency
Urocanic Aciduria	UROCD
High Urine Urocanic Acid Levels

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10261	PDHA1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDHA1	VGNC	VGNC:56948
Rattus norvegicus	PDHA1	RGD	RGD:3286
Macaca mulatta	PDHA1	VGNC	VGNC:103841
Canis familiaris	PDHA1	VGNC	VGNC:54179
Mus musculus	PDHA1	MGD	MGI:97532

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