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PDHA1

From SNPedia

is agene
is mentioned by
Full namepyruvate dehydrogenase (lipoamide) alpha 1
EntrezGene5160
PheGenI5160
VariationViewer5160
ClinVarPDHA1
GeneCardsPDHA1
dbSNP5160
SADR5160
HugeNav5160
wikipediaPDHA1
googlePDHA1
gopubmedPDHA1
EVSPDHA1
HEFalMpPDHA1
MyGene2PDHA1
23andMePDHA1
UniProtP08559
EnsemblENSG00000131828
OMIM300502
# SNPs38
 Max MagnitudeChromosome positionSummary
rs121917898019,355,393
rs137853250019,359,613
rs137853251019,358,953
rs137853252019,358,920
rs137853253019,355,699
rs137853254019,355,360
rs137853255019,355,472
rs137853256019,358,959
rs137853257019,344,066
rs137853258019,357,683
rs137853259019,355,713
rs199959402019,351,368
rs202166915019,355,710
rs2229137019,357,664
rs3810710019,357,664
rs398123300019,353,146
rs606231184019,359,647
rs606231185019,358,950
rs606231186019,359,639
rs606231187019,359,553
rs60623118819,358,933
rs606231189019,359,625
rs606231190019,357,681
rs606231191019,359,589
rs606231192019,359,743
rs794729213019,353,085
rs863224145019,355,452
rs863224146019,358,926
rs863224147019,359,612
rs863224148019,350,033
rs863224149019,351,280
rs863224150019,353,169
rs863224151019,353,114
rs86322415319,358,952
rs86322415419,358,956
rs86322415519,359,025
rs86322415619,359,642
rs86322415719,359,014

Defects in PDHA1 are a cause of pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]. PDHE1 deficiency is the most common enzyme defect in patients with primary lactic acidosis. It is associated with variable clinical phenotypes ranging from neonatal death to prolonged survival complicated by developmental delay, seizures, ataxia, apnea, and in some cases to an X-linked form of Leigh syndrome (LS) (Leigh encephalomyelopathy)