Gene Symbol | LDHB |
Entrez Gene ID | 3945 |
Full Name | lactate dehydrogenase B |
Synonyms | HEL-S-281,LDH-B,LDH-H,LDHBD,TRG-5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | [Lactate dehydrogenase-B deficiency], 614128 (3) |