LDHB Gene (Lactate Dehydrogenase B): Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the LDHB gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | LDHB |
|---|---|
| Full Name | Lactate Dehydrogenase B |
| Gene Type | protein coding |
| Chromosomal Location | 12p12.1 (GRCh38) |
| NCBI Gene ID | 3945 ncbi.nlm.nih.gov/gene/3945 |
| Ensembl ID | ENSG00000111716 |
| UniProt ID | P07195 |
| OMIM ID | 150100 |
| HGNC ID | 6541 |
| Aliases | LDH-B; LDHBD; LDH-H; LDHH; HEL-S-281; L-lactate dehydrogenase B chain |
Description
The LDHB gene encodes the B subunit of lactate dehydrogenase (LDH), a tetrameric enzyme that catalyzes the interconversion of pyruvate and lactate, with concomitant interconversion of NADH and NAD+. LDHB is one of two subunits (LDHA and LDHB) that combine to form five isozymes (LDH-1 to LDH-5). The LDHB subunit is predominantly expressed in heart and red blood cells, favoring the conversion of lactate to pyruvate under aerobic conditions. LDHB plays a critical role in cellular metabolism, particularly in tissues with high oxidative capacity. Alterations in LDHB expression have been implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lactate dehydrogenase deficiency (LDH-B deficiency) | Loss-of-function mutations in LDHB lead to reduced LDH activity, impairing lactate metabolism and causing exercise intolerance and myopathy. | OMIM #150100; ClinVar |
| Cancer (multiple types) | LDHB is often downregulated in tumors, promoting aerobic glycolysis (Warburg effect) and tumor progression. Loss of LDHB expression is associated with poor prognosis in several cancers. | COSMIC; PubMed |
| Hemolytic anemia (rare) | LDH-B deficiency can affect red blood cell metabolism, leading to hemolysis in some cases. | OMIM; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Skeletal Muscle | Medium | Medium |
| Brain | Medium | Medium |
| Liver | Low | Low |
| Kidney | Medium | Medium |
| Red Blood Cells | High | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| HepG2 | Medium | Liver cancer cell line |
| MCF7 | Medium | Breast cancer cell line |
| A549 | Low | Lung cancer cell line |
| K562 | High | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.475G>A (p.Gly159Arg) | Missense | Rare | Reduced enzyme activity; associated with LDH-B deficiency |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of protein expression; LDH-B deficiency |
| c.IVS3+1G>A | Splice site | Rare | Aberrant splicing; loss of function |
| c.835C>T (p.Arg279Cys) | Missense | Rare | Impaired subunit assembly; reduced activity |
Mutation functional classification
Loss of Function (LOF)
Most LDHB mutations are loss-of-function, leading to reduced or absent LDH-B enzyme activity, causing LDH deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LDHB.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by forming inactive heterotetramers with wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • L-lactate dehydrogenase activity | • NAD binding |
| • identical protein binding | • cytosol |
| • cytoplasm | • glycolysis |
| • response to hypoxia | • carbohydrate metabolic process |
Pathways
• Glycolysis / Gluconeogenesis
• Pyruvate metabolism
• Central carbon metabolism in cancer
Protein Summary
The LDHB protein (UniProt P07195) is a 334-amino-acid polypeptide that forms homo- or heterotetramers with LDHA. The LDHB subunit has a higher affinity for lactate and is more efficient in converting lactate to pyruvate, favoring aerobic metabolism. The protein is localized in the cytoplasm and is highly expressed in heart and skeletal muscle. Post-translational modifications include acetylation and phosphorylation, which can modulate its activity. LDHB is a key enzyme in the glycolytic pathway and is involved in the Warburg effect in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDHB Knockout HEK293 Cell Line | EDJ-KQ1519 | Human | 3945 | Details Get a Quote |
| LDHB Knockout A-549 Cell Line | EDJ-KQ21156 | Human | 3945 | Details Get a Quote |
| LDHB Knockout HCT 116 Cell Line | EDJ-KQ21157 | Human | 3945 | Details Get a Quote |
| LDHB Knockout HeLa Cell Line | EDC10188 | Human | 3945 | Details Get a Quote |
| LDHB Knockout Huh-7 Cell Line | EDJ-KZ328 | Human | 3945 | Details Get a Quote |
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