LDHB Chromosome 12
Lactate dehydrogenase B
Upload your DNA to see your personal genotypes for variants in LDHB.
What This Gene Does
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]
Gene Info
Gene Group
L-lactate dehydrogenase family
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000111716
Associated Conditions (1)
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369064312 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
| RS118203895 | Trait | Affects | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
| RS118203896 | Trait | Affects | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
| RS118203897 | Trait | Affects | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
| RS267607212 | Trait | Affects | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |