Aliases for LDHB Gene
External Ids for LDHB Gene
Previous GeneCards Identifiers for LDHB Gene
This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]
GeneCards Summary for LDHB Gene
LDHB (Lactate Dehydrogenase B) is a Protein Coding gene. Diseases associated with LDHB include Lactate Dehydrogenase B Deficiency and Triosephosphate Isomerase Deficiency. Among its related pathways are Glucose metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is ENSG00000285854.