lactate dehydrogenase A

Summary
Gene Symbol
  • LDHA
Organism
Homo sapiens (human)
NCBI Gene
3939
HGNC
6535
KEGG Gene ID
hsa:3939
PubChem
3939
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Glycogen storage disease
  • Isopeptide bond
  • NAD
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
V9HWB9
P00338
  • Cell proliferation-inducing gene 19 protein
  • LDH muscle subunit
  • Renal carcinoma antigen NY-REN-59
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00016
Name
L-lactate dehydrogenase [EC:1.1.1.27]
References
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000083 Renal insufficiency
HP:0000989 Pruritus
HP:0001036 Parakeratosis
HP:0001787 Abnormal delivery
HP:0001919 Acute kidney injury
HP:0002046 Heat intolerance
HP:0002063 Rigidity
HP:0002151 Increased circulating lactate concentration
HP:0002910 Elevated circulating hepatic transaminase concentration
Displaying all 2 entries
Disease ID Disease Name
OMIM:612933
  • glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
ORPHA:284426
  • glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024