LDHC: Lactate Dehydrogenase C
A testis-specific lactate dehydrogenase involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | LDHC |
|---|---|
| Full Name | Lactate Dehydrogenase C |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 3948 ncbi.nlm.nih.gov/gene/3948 |
| Ensembl ID | ENSG00000134539 |
| UniProt ID | P07864 |
| OMIM ID | 150150 |
| HGNC ID | 6543 |
| Aliases | LDH-C4, LDH3, LDHX, LDH testis |
Description
LDHC encodes the C subunit of lactate dehydrogenase (LDH), a tetrameric enzyme that catalyzes the interconversion of pyruvate and lactate with NADH/NAD+ as cofactor. This subunit is specifically expressed in the testis, forming the homotetramer LDH-C4, which is essential for energy metabolism during spermatogenesis and sperm function. Mutations in LDHC are associated with male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of LDH-C4 activity disrupts lactate/pyruvate metabolism in germ cells, impairing sperm motility and maturation. | ClinVar; PMID: 28492532 |
| Asthenozoospermia | Reduced LDH-C4 activity leads to decreased ATP production in sperm flagella, causing low motility. | ClinVar; PMID: 30929738 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | 35.0 | High expression in meiotic germ cells |
| Spermatids | 40.2 | High expression in post-meiotic cells |
| Spermatozoa | 25.0 | Mature sperm |
| HeLa | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; no protein produced |
| c.274C>T (p.Arg92Cys) | missense | <0.01% | Reduced enzyme activity; associated with asthenozoospermia |
| c.485G>A (p.Arg162His) | missense | <0.01% | Decreased catalytic efficiency; linked to male infertility |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg92Cys, p.Arg162His) reduce or abolish LDH-C4 enzymatic activity, impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; LDHC is autosomal and mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • L-lactate dehydrogenase activity (GO:0004459) | • NAD binding (GO:0051287) |
| • L-lactate dehydrogenase complex (GO:0005959) | • glycolytic process (GO:0006096) |
| • spermatogenesis (GO:0007283) | • sperm motility (GO:0030317) |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Pyruvate metabolism (KEGG: hsa00620)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The LDHC protein (332 amino acids, ~36 kDa) forms a homotetramer (LDH-C4) with high affinity for lactate and NAD+. It is structurally similar to LDH-A and LDH-B but has unique kinetic properties adapted to the testicular environment. LDH-C4 is localized in the cytoplasm and flagellum of sperm, where it provides ATP for motility. Its expression is strictly testis-specific, making it a potential target for male contraceptive development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDHC Knockout HEK293 Cell Line | EDJ-KQ919 | Human | 3948 | Details Get a Quote |
| LDHC Knockout HeLa Cell Line | EDJ-KQ53785 | Human | 3948 | Details Get a Quote |
| LDHC Knockout A-549 Cell Line | EDJ-KQ62263 | Human | 3948 | Details Get a Quote |
| LDHC Knockout HCT 116 Cell Line | EDJ-KQ70747 | Human | 3948 | Details Get a Quote |
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