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Symbol report for PDHA1

Stable symbol

HGNC data for PDHA1

Approved symbol
PDHA1
Approved name

pyruvate dehydrogenase E1 subunit alpha 1

Locus type
gene with protein product
HGNC ID
HGNC:8806
Symbol status
Approved
Previous symbols
PDHA
Previous names
pyruvate dehydrogenase (lipoamide) alpha 1
pyruvate dehydrogenase alpha 1
Alias symbols
E1alpha
Alias names
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Chromosomal location
Xp22.12
Gene groups
Gene resources for PDHA1
Ensembl
ENSG00000131828 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
5160 Curated
UCSC
uc011mjc.3
Alliance of Genome Resources
HGNC:8806
Nucleotide resources for PDHA1
MANE Select
NM_000284.4
ENST00000422285.7
RefSeq
NM_000284
NCBI sequence viewer
Protein resources for PDHA1
UniProt/Swiss-Prot
P08559
InterProPDBeReactome
AlphaFold
AF-P08559-F1
Enzyme Commission
1.2.4.1 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for PDHA1
Bos taurus
PDHA1 VGNC:56948 VGNC
Canis familiaris
PDHA1 VGNC:54179 VGNC
Equus caballus
PDHA1 VGNC:55508 VGNC
Macaca mulatta
PDHA1 VGNC:103841 VGNC
Mus musculus
Pdha1 MGI:97532 Curated
Pan troglodytes
PDHA1 VGNC:14835 VGNC
Rattus norvegicus
Pdha1 RGD:3286
Clinical resources for PDHA1
OMIM
300502
LSDB
Global Variome shared LOVD Curated
GenCC
HGNC:8806
MedlinePlus
Search via PDHA1
DECIPHER
Search via PDHA1
ClinGen
Search via HGNC:8806
Genetic Testing Registry
Search via NCBI Gene ID 5160
ClinVar
Search via NCBI Gene ID 5160
dbVar
Search via NCBI Gene ID 5160
Orphanet
124161
Other resources for PDHA1
AmiGO
Search via P08559
QuickGO
Search via P08559
BioGPS
Search via NCBI Gene ID 5160
GeneCards
Search via HGNC:8806
Monarch
Search via HGNC:8806
WikiGenes
Search via NCBI Gene ID 5160