Gene: MAP3K15

Alternate names for this Gene: ASK3|bA723P2.3

Gene Summary: The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.12

Description of this Gene: mitogen-activated protein kinase kinase kinase 15

Type of Gene: protein-coding

Gene: PDHA1

Alternate names for this Gene: PDHA|PDHAD|PDHCE1A|PHE1A

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.12

Description of this Gene: pyruvate dehydrogenase E1 subunit alpha 1

Type of Gene: protein-coding

rs606231189 in MAP3K15;PDHA1 gene and Dysmorphic features PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

rs606231189 in MAP3K15;PDHA1 gene and Multiple congenital anomalies PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

rs1555935486 in MAP3K15;PDHA1 gene and Pyruvate Dehydrogenase Complex Deficiency Disease PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.